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About 45 results

ALLMedicine™ Primary Carnitine Deficiency Center - Clinicaltrials.gov

Carnitor sf - levocarnitine solution-Leadiant Biosciences, Inc.
https://dailymed.nlm.nih.gov/dailymed/drugInfo.cfm?setid=dd904490-83f3-4cd3-bb6f-68e28509b4b6

Nov 24th, 2020 - CARNITOR ® (levocarnitine) is indicated in the treatment of primary systemic carnitine deficiency. In the reported cases, the clinical presentation consisted of recurrent episodes of Reye-like encephalopathy, hypoketotic hypoglycemia, and/or cardiomyopathy. Associated symptoms included hypotonia, muscle weakness and failure to thrive. A diagnosis of primary carnitine deficiency requires that se...

Carnitor - levocarnitine solution-Leadiant Biosciences, Inc.
https://dailymed.nlm.nih.gov/dailymed/drugInfo.cfm?setid=b2cbc620-59fd-47b6-9e4b-7e3e31533a1c

Nov 24th, 2020 - CARNITOR ® (levocarnitine) is indicated in the treatment of primary systemic carnitine deficiency. In the reported cases, the clinical presentation consisted of recurrent episodes of Reye-like encephalopathy, hypoketotic hypoglycemia, and/or cardiomyopathy. Associated symptoms included hypotonia, muscle weakness and failure to thrive. A diagnosis of primary carnitine deficiency requires that se...

Carnitor - levocarnitine tablet-Leadiant Biosciences, Inc.
https://dailymed.nlm.nih.gov/dailymed/drugInfo.cfm?setid=d2133bc3-9c15-48bd-8b16-b8995a6a14cd

Nov 18th, 2020 - CARNITOR ® (levocarnitine) is indicated in the treatment of primary systemic carnitine deficiency. In the reported cases, the clinical presentation consisted of recurrent episodes of Reye-like encephalopathy, hypoketotic hypoglycemia, and/or cardiomyopathy. Associated symptoms included hypotonia, muscle weakness and failure to thrive. A diagnosis of primary carnitine deficiency requires that se...

Combined primary carnitine deficiency with neonatal intrahepatic cholestasis caused by ...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7552534
BMC Pediatrics; Lin Y, Lin W et. al.

Oct 14th, 2020 - Primary carnitine deficiency (PCD) is an autosomal recessive disorder affecting the carnitine cycle and resulting in defective fatty acid oxidation. Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is an autosomal recessive disorder and one of the main causes of inherited neonatal cholestasis. Both PCD and NICCD are included in the current expanded newborn screening (NBS) t...

Levocarnitine - levocarnitine solution-Hi-Tech Pharmacal Co., Inc.
https://dailymed.nlm.nih.gov/dailymed/drugInfo.cfm?setid=3563c2f5-9814-4d55-8d90-bd7d6dcff36b

Oct 4th, 2020 - Levocarnitine is indicated in the treatment of primary systemic carnitine deficiency. In the reported cases, the clinical presentation consisted of recurrent episodes of Reye-like encephalopathy, hypoketotic hypoglycemia, and/or cardiomyopathy. Associated symptoms included hypotonia, muscle weakness and failure to thrive. A diagnosis of primary carnitine deficiency requires that serum, red cell...

Levocarnitine - levocarnitine tablet-Hi-Tech Pharmacal Co., Inc.
https://dailymed.nlm.nih.gov/dailymed/drugInfo.cfm?setid=c8a590a7-628b-45c5-ac2c-24214a69eaa6

Oct 4th, 2020 - Levocarnitine is indicated in the treatment of primary systemic carnitine deficiency. In the reported cases, the clinical presentation consisted of recurrent episodes of Reye-like encephalopathy, hypoketotic hypoglycemia, and/or cardiomyopathy. Associated symptoms included hypotonia, muscle weakness and failure to thrive. A diagnosis of primary carnitine deficiency requires that serum, red cell...

Primary carnitine deficiency - diagnosis after heart transplantation: better late than ...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7146900
Orphanet Journal of Rare Diseases; Grünert SC, Tucci S et. al.

Apr 11th, 2020 - Primary carnitine deficiency due to mutations in the SLC22A5 gene is a rare but well-treatable metabolic disorder that puts patients at risk for metabolic decompensations, skeletal and cardiac myopathy and sudden cardiac death. We report on a 7-year-old boy diagnosed with primary carnitine deficiency 2 years after successful heart transplantation thanks his younger sister's having been identifi...

Levocarnitine - levocarnitine oral solution solution-Novitium Pharma LLC
https://dailymed.nlm.nih.gov/dailymed/drugInfo.cfm?setid=18dc8eae-56c1-46ec-9d21-e17d7b2f91db

Oct 22nd, 2019 - Levocarnitine is indicated in the treatment of primary systemic carnitine deficiency. In the reported cases, the clinical presentation consisted of recurrent episodes of Reye-like encephalopathy, hypoketotic hypoglycemia, and/or cardiomyopathy. Associated symptoms included hypotonia, muscle weakness and failure to thrive. A diagnosis of primary carnitine deficiency requires that serum, red cell...

Molecular Autopsy Implicates Primary Carnitine Deficiency in Sudden Unexplained Death a...
https://doi.org/10.1016/j.cjca.2019.05.014
The Canadian Journal of Cardiology; Gélinas R, Leach E et. al.

Sep 1st, 2019 - We report a case of sudden unexplained death in a young asymptomatic woman in whom postmortem genetic testing after a negative autopsy identified a homozygous pathogenic mutation in SLC22A5 which leads clinically to primary carnitine deficiency (PCD). Her brother was subsequently diagnosed clinically with short QT syndrome, received an implantable defibrillator, and was then found to carry the ...

Increased risk of sudden death in untreated primary carnitine deficiency.
https://doi.org/10.1002/jimd.12158
Journal of Inherited Metabolic Disease REFERENCES; Rasmussen J, Dunø M et. al.

Aug 2nd, 2019 - Primary carnitine deficiency (PCD) affects fatty acid oxidation and is associated with cardiomyopathy and cardiac arrhythmia, but the risk of sudden death in PCD is unknown. The Faroe Islands have a high prevalence of PCD, 1:300. This study systematically investigated a possible association between untreated PCD and sudden death in young Faroese subjects. We investigated all medico-legal cases ...

Molecular investigation in Chinese patients with primary carnitine deficiency.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6732302
Molecular Genetics & Genomic Medicine; Zhang Y, Li H et. al.

Jul 31st, 2019 - Primary carnitine deficiency (PCD) is an autosomal recessive disorder of carnitine transportation caused by mutations in the SLC22A5 that lead to low serum carnitine levels and decreased intracellular carnitine accumulation. Characteristic clinical findings are hypoketotic hypoglycemia and skeletal and cardiac myopathy. To genetically diagnose 24 unrelated Chinese patients with PCD, including 1...

A newborn with seizures born to a mother diagnosed with primary carnitine deficiency.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6421665
BMC Pediatrics; Chen S, Hu Y et. al.

Mar 19th, 2019 - Maternofetal carnitine transport through the placenta is the main route of fetal carnitine uptake. Decreased free carnitine levels discovered by newborn screening has identified many asymptomatic adult women with systemic primary carnitine deficiency (PCD). Here, we presented amplitude integrated electroencephalogram (aEEG) and magnetic resonance imaging (MRI) findings from a neonate with epile...

Using dried blood spot samples from a trio for linked-read whole-exome sequencing.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6777531
European Journal of Human Genetics : EJHG; Mortensen Ó, Lydersen LN et. al.

Feb 15th, 2019 - Long-term collection of dried blood spot (DBS) samples through newborn screening may have retrospective and prospective advantages, especially in combination with advanced analytical techniques. This work concerns whether linked-reads may overcome some of the limitations of short-read sequencing of DBS samples, such as performing molecular phasing. We performed whole-exome sequencing of DNA ext...

Levocarnitine - levocarnitine solution-Rising Pharmaceuticals, Inc.
https://dailymed.nlm.nih.gov/dailymed/drugInfo.cfm?setid=ada35959-e317-4161-ae79-3475096c679f

Oct 4th, 2018 - Levocarnitine Oral Solution USP is indicated in the treatment of primary systemic carnitine deficiency. In the reported cases, the clinical presentation consisted of recurrent episodes of Reye-like encephalopathy, hypoketotic hypoglycemia, and/or cardiomyopathy. Associated symptoms included hypotonia, muscle weakness and failure to thrive. A diagnosis of primary carnitine deficiency requires th...

L-Carnitine Improves Skeletal Muscle Fat Oxidation in Primary Carnitine Deficiency.
https://doi.org/10.1210/jc.2018-00953
The Journal of Clinical Endocrinology and Metabolism; Madsen KL, Preisler N et. al.

Sep 16th, 2018 - Primary carnitine deficiency (PCD) is an inborn error of fatty acid metabolism. Patients with PCD are risk for sudden heart failure upon fasting or illness if they are not treated with daily l-carnitine. To investigate energy metabolism during exercise in patients with PCD with and without l-carnitine treatment. Interventional study. Hospital exercise laboratories and department of cardiology. ...

Lipid storage myopathies: Current treatments and future directions.
https://doi.org/10.1016/j.plipres.2018.08.001
Progress in Lipid Research; Vasiljevski ER, Summers MA et. al.

Aug 13th, 2018 - Lipid storage myopathies (LSMs) are a heterogeneous group of genetic disorders that present with abnormal lipid storage in multiple body organs, typically muscle. Patients can clinically present with cardiomyopathy, skeletal muscle weakness, myalgia, and extreme fatigue. An early diagnosis is crucial, as some LSMs can be managed by simple nutraceutical supplementation. For example, high dosage ...

Primary carnitine deficiency in a 57-year-old patient with recurrent exertional rhabdom...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6011464
BMJ Case Reports; Echaniz-Laguna A, Biancalana V et. al.

Jun 13th, 2018 - Rhabdomyolysis is an emergency requiring rapid diagnosis and suitable aetiological treatment. We describe the case of a 57-year-old man with recurrent exertional rhabdomyolysis who was diagnosed with systemic primary carnitine deficiency (SPCD). Clinical examination was normal, creatine kinase levels were elevated, plasma free carnitine concentration was mildly decreased, muscle biopsy demonstr...

SLC22A5 Mutations in a Patient With Systemic Primary Carnitine Deficiency and Cleft Pal...
https://doi.org/10.1097/SCS.0000000000004595
The Journal of Craniofacial Surgery; Hu CW, Hu CH et. al.

May 11th, 2018 - Primary systemic carnitine deficiency (SCD) is an autosomal-recessive disorder caused by SLC22A5 gene mutation resulting in defective cellular carnitine transporter organic cation transporter 2. Defective carnitine transporter causes renal carnitine wasting and low serum carnitine. Carnitine is an essential cofactor for the transportation of long-chain fatty acids into the mitochondria. Lacking...

L-carnitine for Fatigue in COPD
https://clinicaltrials.gov/ct2/show/NCT03008356

Feb 27th, 2018 - supplementation with L-carnitine that is available both as an FDA-approved therapy for primary carnitine deficiency, as well as widely available as an over-the-counter ergogenic aid will improve wellbeing and function measured by questionnaires in patient with chronic obstructive pulmonary disease (COPD). based on our review of literature that addition of health coaching (HC) to L-carnitine wil...

Levocarnitine - levocarnitine tablet-Rising Pharmaceuticals, Inc.
https://dailymed.nlm.nih.gov/dailymed/drugInfo.cfm?setid=479e0e78-9b6e-4991-80f3-e92386722765

Oct 8th, 2017 - Levocarnitine tablets, USP are indicated in the treatment of primary systemic carnitine deficiency. In the reported cases, the clinical presentation consisted of recurrent episodes of Reye-like encephalopathy, hypoketotic hypoglycemia, and/or cardiomyopathy. Associated symptoms included hypotonia, muscle weakness and failure to thrive. A diagnosis of primary carnitine deficiency requires that s...

Clinical features and genotyping of patients with primary carnitine deficiency identifi...
https://doi.org/10.1515/jpem-2017-0002
Journal of Pediatric Endocrinology & Metabolism : JPEM; Sun Y, Wang YY et. al.

Jul 28th, 2017 - The objective of the study was to investigate clinical and gene mutation characteristics of primary carnitine deficiency (PCD) patients identified by newborn screening using tandem mass spectrometry (MS/MS). Tandem mass spectrometry (MS/MS) was applied to screen inherited metabolic disease and seven patients with PCD were diagnosed among 62,568 samples. The SLC22A5 gene was detected by using di...

Levocarnitine - levocarnitine tablet-Avera McKennan Hospital
https://dailymed.nlm.nih.gov/dailymed/drugInfo.cfm?setid=ff931c00-986d-47aa-b089-9a1ee850815b

Mar 27th, 2017 - Levocarnitine is indicated in the treatment of primary systemic carnitine deficiency. In the reported cases, the clinical presentation consisted of recurrent episodes of Reye-like encephalopathy, hypoketotic hypoglycemia, and/or cardiomyopathy. Associated symptoms included hypotonia, muscle weakness and failure to thrive. A diagnosis of primary carnitine deficiency requires that serum, red cell...

Multiple AMPK activators inhibit l-carnitine uptake in C2C12 skeletal muscle myotubes.
https://doi.org/10.1152/ajpcell.00026.2016
American Journal of Physiology. Cell Physiology; Shaw A, Jeromson S et. al.

Mar 16th, 2017 - Mutations in the gene that encodes the principal l-carnitine transporter, OCTN2, can lead to a reduced intracellular l-carnitine pool and the disease Primary Carnitine Deficiency. l-Carnitine supplementation is used therapeutically to increase intracellular l-carnitine. As AMPK and insulin regulate fat metabolism and substrate uptake, we hypothesized that AMPK-activating compounds and insulin w...

Exome sequencing identifies primary carnitine deficiency in a family with cardiomyopath...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5477358
European Journal of Human Genetics : EJHG; Lahrouchi N, Lodder EM et. al.

Mar 15th, 2017 - Pediatric cardiomyopathy is a rare but severe disease with high morbidity and mortality. The causes are poorly understood and can only be established in one-third of cases. Recent advances in genetic technologies, specifically next-generation sequencing, now allow for the detection of genetic causes of cardiomyopathy in a systematic and unbiased manner. This is particularly important given the ...

Primary Carnitine Deficiency and Newborn Screening for Disorders of the Carnitine Cycle.
https://doi.org/10.1159/000448321
Annals of Nutrition & Metabolism; Longo N

Dec 8th, 2016 - Carnitine is needed for transfer of long-chain fatty acids across the inner mitochondrial membrane for subsequent β-oxidation. Carnitine can be synthesized by the body and is also obtained in the diet through consumption of meat and dairy products. Defects in carnitine transport such as those caused by defective activity of the OCTN2 transporter encoded by the SLC22A5 gene result in primary car...

Historical Perspective on Clinical Trials of Carnitine in Children and Adults.
https://doi.org/10.1159/000448320
Annals of Nutrition & Metabolism; Buist NR

Dec 8th, 2016 - The metabolic roles of carnitine have been greatly clarified over the past 50 years, and it is now well established that carnitine is a key player in mitochondrial generation of energy and metabolism of acetyl coenzyme A. A therapeutic role for carnitine in treatment of nutritional deficiencies in infants and children was first demonstrated in 1958, and since that time it has been used to treat...

Systemic Primary Carnitine Deficiency - GeneReviews® - NCBI Bookshelf
https://www.ncbi.nlm.nih.gov/books/n/gene/cdsp/

Nov 2nd, 2016 - Systemic primary carnitine deficiency (CDSP) is a disorder of the carnitine cycle that results in defective fatty acid oxidation. It encompasses a broad clinical spectrum including the following:

Primary systemic carnitine deficiency: a Turkish case with a novel homozygous SLC22A5 m...
https://doi.org/10.1515/jpem-2014-0528
Journal of Pediatric Endocrinology & Metabolism : JPEM; Yilmaz BS, Kor D et. al.

Jun 1st, 2015 - Systemic primary carnitine deficiency is an autosomal recessive disorder caused by the deficiency of carnitine transporter. Main features are cardiomyopathy, myopathy and hypoglycemic encephalopathy. We report a Turkish case with a novel SLC22A5 gene mutation presented with a pure cardiac phenotype. During the 14-year follow-up study, cardiac functions were remained within a normal range with o...

Fulminant lipid storage myopathy due to multiple acyl-coenzyme a dehydrogenase deficiency.
https://doi.org/10.1002/mus.24552
Muscle & Nerve; Whitaker CH, Felice KJ et. al.

Jan 5th, 2015 - The lipid storage myopathies, primary carnitine deficiency, neutral lipid storage disease, and multiple acyl coenzyme A dehydrogenase deficiency (MADD), are progressive disorders that cause permanent weakness. These disorders of fatty acid metabolism and intracellular triglyceride degradation cause marked fat deposition and damage to muscle cells. We describe a rapidly progressive myopathy in a...

Analysis of genetic mutations in Chinese patients with systemic primary carnitine defic...
https://doi.org/10.1016/j.ejmg.2014.08.001
European Journal of Medical Genetics; Han L, Wang F et. al.

Aug 18th, 2014 - Systemic primary carnitine deficiency (CDSP) is caused by mutations in SLC22A5 gene, which encodes organic cation transporter 2(OCTN2). CDSP leads to skeletal or cardiac myopathy and hepatic encephalopathy. The present study aimed to identify SLC22A5 gene mutations and analyze the potential relationship between genotype and clinical symptoms in 20 Chinese patients with CDSP. The complete coding...

MRI findings in encephalopathy with primary carnitine deficiency: a case report.
https://doi.org/10.1111/jon.12102
Journal of Neuroimaging : Official Journal of the American Society of Neuroimaging; Yilmaz TF, Atay M et. al.

Mar 12th, 2014 - We presented MRI and DWI findings of a 12-year-old boy with primary carnitine deficiency, manifested with hypoglycemic hypoketotic encephalopathy. Magnetic resonance imaging (MRI) and diffusion weighted imaging (DWI) were performed to the patient. In our case, T2 hyperintensity and diffusion restriction were noted bilaterally in the corona radiate, cerebral white matter, deep white matter of ce...

Caveolin-1--a novel interacting partner of organic cation/carnitine transporter (Octn2)...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3862573
PloS One; Czeredys M, Samluk Ł et. al.

Dec 18th, 2013 - OCTN2--the Organic Cation Transporter Novel family member 2 (SLC22A5) is known to be a xenobiotic/drug transporter. It transports as well carnitine--a compound necessary for oxidation of fatty acids and mutations of its gene cause primary carnitine deficiency. Octn2 regulation by protein kinase C (PKC) was studied in rat astrocytes--cells in which β-oxidation takes place in the brain. Activatio...

Primary Carnitine deficiency in the Faroe Islands: health and cardiac status in 76 adul...
https://doi.org/10.1007/s10545-013-9640-0
Journal of Inherited Metabolic Disease; Rasmussen J, Køber L et. al.

Aug 21st, 2013 - Carnitine deficiency can cause cardiomyopathy and cardiac arrhythmia. The prevalence in the Faroe Islands is the highest reported in the world (1:300). A nationwide screening program identified 76 Faroese adult patients (15-80 years) with Primary Carnitine Deficiency (PCD). We describe prior and current health status and symptoms in these patients, especially focusing on cardiac characteristics...

Carnitine levels in 26,462 individuals from the nationwide screening program for primar...
https://doi.org/10.1007/s10545-013-9606-2
Journal of Inherited Metabolic Disease; Rasmussen J, Nielsen OW et. al.

May 8th, 2013 - Primary carnitine deficiency (PCD) is an autosomal recessive disorder of fatty acid oxidation and has been associated to episodes of sudden death in the Faroe Islands. Data are presented from the nationwide population based Faroese screening program to find people with low carnitine levels indicating PCD. Whole blood samples from dried blood spots were analysed by tandem mass spectrometry with ...

Primary carnitine deficiency: novel mutations and insights into the cardiac phenotype.
https://doi.org/10.1111/cge.12112
Clinical Genetics; Shibbani K, Fahed AC et. al.

Feb 5th, 2013 - Solute carrier family 22 member 5 (SLC22A5) encodes a sodium-dependent ion transporter responsible for shuffling carnitine across the plasma membrane. This process provides energy for the heart, among other organs allowing beta-oxidation of fatty acids. Mutations in SLC22A5 result in primary carnitine deficiency (PCD), a disorder that manifests with cardiac, skeletal, or metabolic symptoms. We ...

SLC22A5 mutations in a patient with systemic primary carnitine deficiency: the first Ko...
https://www.ncbi.nlm.nih.gov/pubmed/23090741
Annals of Clinical and Laboratory Science; Yoon YA, Lee DH et. al.

Oct 23rd, 2012 - Systemic primary carnitine deficiency (CDSP) is a rare autosomal recessive disorder that presents episodic periods of hypoketotic hypoglycemia. The main symptoms of CDSP are skeletal and cardiac myopathy. CDSP is caused by a defect in plasma membrane uptake of carnitine, ultimately caused by the SLC22A5 gene. We report the case of a Korean patient with CDSP. He had an abnormal free carnitine le...

Systemic primary carnitine deficiency: an overview of clinical manifestations, diagnosi...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3495906
Orphanet Journal of Rare Diseases; Magoulas PL, El-Hattab AW

Sep 19th, 2012 - Systemic primary carnitine deficiency (CDSP) is an autosomal recessive disorder of carnitine transportation. The clinical manifestations of CDSP can vary widely with respect to age of onset, organ involvement, and severity of symptoms, but are typically characterized by episodes of hypoketotic hypoglycemia, hepatomegaly, elevated transaminases, and hyperammonemia in infants; skeletal myopathy, ...

Primary carnitine deficiency and pivalic acid exposure causing encephalopathy and fatal...
https://doi.org/10.1007/s10545-012-9488-8
Journal of Inherited Metabolic Disease; Rasmussen J, Nielsen OW et. al.

May 8th, 2012 - Several episodes of sudden death among young Faroese individuals have been associated with primary carnitine deficiency (PCD). Patients suffering from PCD have low carnitine levels and can present with metabolic and/or cardiac complications. Pivalic acid exposure decreases carnitine levels. The purpose of this study was to investigate and describe the association and pathophysiology of exposure...

Carnitine supplementation for inborn errors of metabolism.
https://doi.org/10.1002/14651858.CD006659.pub3
The Cochrane Database of Systematic Reviews; Nasser M, Javaheri H et. al.

Feb 17th, 2012 - Inborn errors of metabolism are genetic conditions which can lead to abnormalities in the synthesis and metabolism of proteins, carbohydrates, or fats. It has been proposed that in some instances carnitine supplementation should be provided to infants with a suspected metabolic disease as an interim measure, particularly whilst awaiting test results. Carnitine supplementation is used in the tre...

Primary carnitine deficiency and sudden death: in vivo evidence of myocardial lipid per...
https://doi.org/10.1159/000333127
Cardiology Mazzini M, Tadros T et. al.

Nov 25th, 2011 - Primary carnitine deficiency is an autosomal recessive disorder caused by mutations in the SLC22A5 gene which results in impaired carnitine transport, cytosolic fatty acid accumulation and impaired beta oxidation. The disease is associated with cardiomyopathy and arrhythmias, but the mechanism is unknown. We hypothesized that carnitine deficiency results in increased myocardial oxidative stress...

Lipid storage myopathy.
https://doi.org/10.1007/s11910-010-0154-y
Current Neurology and Neuroscience Reports; Liang WC, Nishino I

Nov 3rd, 2010 - Lipid storage myopathy (LSM) is pathologically characterized by prominent lipid accumulation in muscle fibers due to lipid dysmetabolism. Although extensive molecular studies have been performed, there are only four types of genetically diagnosable LSMs: primary carnitine deficiency (PCD), multiple acyl-coenzyme A dehydrogenase deficiency (MADD), neutral lipid storage disease with ichthyosis, a...

Disorders of muscle lipid metabolism: diagnostic and therapeutic challenges.
https://doi.org/10.1016/j.nmd.2010.06.018
Neuromuscular Disorders : NMD; Laforêt P, Vianey-Saban C

Aug 9th, 2010 - Disorders of muscle lipid metabolism may involve intramyocellular triglyceride degradation, carnitine uptake, long-chain fatty acids mitochondrial transport, or fatty acid β-oxidation. Three main diseases leading to permanent muscle weakness are associated with severe increased muscle lipid content (lipid storage myopathies): primary carnitine deficiency, neutral lipid storage disease and multi...

Cardiac conduction improvement in two heterozygotes for primary carnitine deficiency on...
https://doi.org/10.1111/j.1399-0004.2009.01368.x
Clinical Genetics; Sarafoglou K, Tridgell AH et. al.

Jan 25th, 2010 - Expanded newborn screening (NBS) for free carnitine levels has led to the identification of a larger number of heterozygous infants of undiagnosed mothers affected with systemic primary carnitine deficiency (PCD), which in turn leads to the identification of other undiagnosed heterozygous family members. There is an increasing recognition that individuals heterozygous for mutations of genes inv...

Maternal systemic primary carnitine deficiency uncovered by newborn screening: clinical...
https://doi.org/10.1097/GIM.0b013e3181c5e6f7
Genetics in Medicine : Official Journal of the American College of Medical Genetics; El-Hattab AW, Li FY et. al.

Dec 22nd, 2009 - Systemic primary carnitine deficiency is an autosomal recessive disorder of the carnitine cycle caused by mutations in the SLC22A5 gene that encodes the carnitine transporter, organic cation transporter. Systemic primary carnitine deficiency typically presents in childhood with either metabolic decompensation or cardiomyopathy. We report five families in which low free carnitine levels in the i...

Clinical and genetic analysis of lipid storage myopathies.
https://doi.org/10.1002/mus.21167
Muscle & Nerve; Ohkuma A, Noguchi S et. al.

Feb 11th, 2009 - Causative genes have been identified only in four types of lipid storage myopathies (LSMs): SLC22A5 for primary carnitine deficiency (PCD); ETFA, ETFB, and ETFDH for multiple acyl-coenzyme A dehydrogenation deficiency (MADD); PNPLA2 for neutral lipid storage disease with myopathy (NLSDM); and ABHD5 for neutral lipid storage disease with ichthyosis. However, the frequency of these LSMs has not b...