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About 16,890 results

Consensus statement on enzyme replacement therapy for mucopolysaccharidosis IVA in Cent...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9092811
Orphanet Journal of Rare Diseases; Magner M, Almássy Z et. al.

May 11th, 2022 - Mucopolysaccharidosis IVA (MPS IVA), or Morquio A syndrome, is a rare inherited metabolic disorder caused by deficiency of the lysosomal enzyme N-acetylgalactosamine-6-sulfatase. A progressive systemic skeletal chondrodysplasia, leading to significant morbidity and reduced life expectancy is the main clinical feature of this multisystemic disease. Although enzyme replacement therapy with elosul...

Damaging novel mutations in PIGN cause developmental epileptic-dyskinetic encephalopath...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9036787
BMC Pediatrics; Tian M, Chen J et. al.

Apr 27th, 2022 - Mutations in PIGN, resulting in a glycosylphosphatidylinositol (GPI) anchor deficiency, typically leads to multiple congenital anomalies-hypotonia-seizures syndrome. However, the link between PIGN and epilepsy or paroxysmal non-kinesigenic dyskinesia (PNKD) is not well-described. This study reported a patient with PIGN mutation leading to developmental and epileptic encephalopathy and PNKD, to ...

Deletion of MTAP Highly Sensitizes Osteosarcoma Cells to Methionine Restriction With Re...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9016482
Cancer Genomics & Proteomics; Aoki Y, Tome Y et. al.

Apr 18th, 2022 - Methionine addiction is a fundamental and general hallmark of cancer cells, which require exogenous methionine, despite large amounts of methionine synthesized endogenously. 5-Methylthioadenosine phosphorylase (MTAP) plays a principal role as an enzyme in the methionine-salvage pathway, which produces methionine and adenine from methylthioadenosine and is deleted in 27.5% to 37.5% of osteosarco...

A potential new treatment for CDKL5 deficiency disorder.
https://doi.org/10.1016/S1474-4422(22)00127-2
The Lancet. Neurology; Gill D

Apr 17th, 2022 - A potential new treatment for CDKL5 deficiency disorder.|2022|Gill D,|enzymology,therapy,deficiency,drug therapy,

Safety and efficacy of ganaxolone in patients with CDKL5 deficiency disorder: results f...
https://doi.org/10.1016/S1474-4422(22)00077-1
The Lancet. Neurology; Knight EMP, Amin S et. al.

Apr 17th, 2022 - CDKL5 deficiency disorder (CDD) is a rare, X-linked, developmental and epileptic encephalopathy characterised by severe global developmental impairment and seizures that can begin in the first few months after birth and are often treatment refractory. Ganaxolone, an investigational neuroactive steroid, reduced seizure frequency in an open-label, phase 2 trial that included patients with CDD. We...

Mitapivat versus Placebo for Pyruvate Kinase Deficiency.
https://doi.org/10.1056/NEJMoa2116634
The New England Journal of Medicine; Al-Samkari H, Galactéros F et. al.

Apr 14th, 2022 - Pyruvate kinase deficiency is a rare, hereditary, chronic condition that is associated with hemolytic anemia. In a phase 2 study, mitapivat, an oral, first-in-class activator of erythrocyte pyruvate kinase, increased the hemoglobin level in patients with pyruvate kinase deficiency. In this global, phase 3, randomized, placebo-controlled trial, we evaluated the efficacy and safety of mitapivat i...

Challenges in diagnosis and management of acute hepatic porphyrias: from an uncommon pe...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8991793
Orphanet Journal of Rare Diseases; Marcacci M, Ricci A et. al.

Apr 9th, 2022 - Acute hepatic porphyrias (AHPs) are a family of four rare genetic diseases resulting from a deficiency in one of the enzymes involved in heme biosynthesis. AHP patients can experience potentially life-threatening acute attacks, characterized by severe abdominal pain, along with other signs and symptoms including nausea, mental confusion, hyponatraemia, hypertension, tachycardia and muscle weakn...

Diagnostic and Clinical Manifestation Differences of Glucose Transporter Type 1 Deficie...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8950241
International Journal of Environmental Research and Publi... Pawlik W, Okulewicz P et. al.

Mar 26th, 2022 - Glucose transporter type 1 deficiency syndrome is a rare genetic disease that manifests neurological symptoms such as mental impairment or movement disorders, mostly seen in pediatric patients. Here, we highlight the main symptoms, diagnostic difficulties, and genetic correlations of this disease based on different clinical presentations between the members of a family carrying the same mutatio...

A suppressor of dioxygenase inhibition in a yeast model of SDH deficiency.
https://doi.org/10.1530/ERC-21-0349
Endocrine-related Cancer; Beimers W, Braun M et. al.

Mar 23rd, 2022 - A fascinating class of familial paraganglioma (PGL) neuroendocrine tumors is driven by the loss of the tricarboxylic acid (TCA) cycle enzyme succinate dehydrogenase (SDH) resulting in succinate accumulation as an oncometabolite and other metabolic derangements. Here, we exploit a Saccharomyces cerevisiae yeast model of SDH loss where accumulating succinate, and possibly reactive oxygen species,...

Increased expression of Nrf2 and elevated glucose uptake in pheochromocytoma and paraga...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8931959
BMC Cancer; Kamai T, Murakami S et. al.

Mar 19th, 2022 - Pheochromocytomas (PCC) and paragangliomas (PGL) are catecholamine-producing neuroendocrine tumors. According to the World Health Organization Classification 2017, all PCC/PGL are considered to have malignant potential. There is growing evidence that PCC/PGL represent a metabolic disease that leads to aerobic glycolysis. Cellular energy metabolism involves both transcription factor nuclear fact...

Sudden neonatal death in individuals with medium-chain acyl-coenzyme A dehydrogenase de...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9110443
European Journal of Pediatrics; Mütze U, Nennstiel U et. al.

Mar 17th, 2022 - Medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency is the most common disorder of mitochondrial β-oxidation of fatty acids resulting in hypoketotic hypoglycemia, hepatopathy, and often fatal outcome in undiagnosed children. Introduction of tandem mass spectrometry-based newborn screening programs in the late 1990s has significantly reduced morbidity and mortality in MCAD deficiency; h...

Recurrent ligneous conjunctivitis after cataract surgery in a 67-year-old male patient:...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8897893
BMC Ophthalmology; Maamri A, Zemova E et. al.

Mar 7th, 2022 - Ligneous conjunctivitis is a rare form of chronic pseudomembranous conjunctivitis which usually starts during infancy. We report on an unsual case of recurrent ligneous conjunctivitis after cataract surgery in a 67-year-old male patient. The equipment used for the slit-lamp images was a Haag Streit slit lamp BX900 Sn 00,406 with 16 × magnifications. The used batch number of the camera was sn004...

Somatropin therapy in italian adults with growth hormone deficiency.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8895664
BMC Endocrine Disorders; Pricci F, Rotondi D et. al.

Mar 5th, 2022 - In adult population, Growth Hormone Deficiency (GHD) is a complex clinical condition with heterogeneity of causes and duration. Growth Hormone (GH) replacement therapy has beneficial effects entailing a chronic and expensive use. Therefore, entity, appropriateness and standardization of GHD treatment need to be accurately analysed. In Italy, the epidemiological surveillance on somatropin therap...

Desflurane and remifentanil anesthesia in a child with citrin deficiency: A case report.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8896430
Medicine Kim K, Jung SM

Mar 5th, 2022 - Hyperammonemia, metabolic derangement, and/or the prolonged effects of anesthetics may lead to delayed emergence from general anesthesia as well as the onset of type 2 citrullinemia, even in compensated patients with citrin deficiency. A 5-year-old girl with citrin deficiency was scheduled for blepharoplasty under general anesthesia. She developed hyperammonemia with temporary interruption of m...

Delineating the epilepsy phenotype of NGLY1 deficiency.
https://doi.org/10.1002/jimd.12494
Journal of Inherited Metabolic Disease; Levy RJ, Frater CH et. al.

Mar 5th, 2022 - We delineated the phenotypic spectrum of epilepsy in individuals with NGLY1 deficiency from an international cohort. We collected detailed clinical and electroencephalographic data from 29 individuals with bi-allelic (likely) pathogenic variants in NGLY1 as part of an ongoing prospective natural history study. Participants were evaluated in-person at a single center and/or remotely. Historical ...

DT7 peptide-modified lecithin nanoparticles co-loaded with γ-secretase inhibitor and de...
https://doi.org/10.1016/j.canlet.2022.215608
Cancer Letters; Zhou Y, Guan L et. al.

Mar 4th, 2022 - T-cell acute lymphoblastic leukemia (T-ALL) is a serious hematologic malignancy and glucocorticoid resistance is the main recurrent cause for a high relapsed and death rate. Here, we proposed an effective therapeutic regimen of combining gamma-secretase inhibitors (GSIs) with dexamethasone (DEX) to overcome glucocorticoid resistance. Moreover, the bone marrow targeting DT7 peptide-modified leci...

Pediatric growth hormone treatment in Italy: A systematic review of epidemiology, quali...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8880399
PloS One; Orso M, Polistena B et. al.

Feb 26th, 2022 - This systematic review aims to describe 1) the epidemiology of the diseases indicated for treatment with growth hormone (GH) in Italy; 2) the adherence to the GH treatment in Italy and factors associated with non-adherence; 3) the economic impact of GH treatment in Italy; 4) the quality of life of patients treated with GH and their caregivers in Italy. Systematic literature searches were perfor...

Do We Have Sufficient Evidence to Define Prognosis for "Low-grade" Fumarate Hydratase-d...
https://doi.org/10.1097/PAP.0000000000000335
Advances in Anatomic Pathology; Gupta S, Menon S et. al.

Feb 25th, 2022 - Do We Have Sufficient Evidence to Define Prognosis for "Low-grade" Fumarate Hydratase-deficient Renal Cell Carcinoma?|2022|Gupta S,Menon S,Raghunathan A,Herrera-Hernandez L,Jimenez RE,|diagnosis,enzymology,pathology,deficiency,genetics,diagnosis,enzymology,pathology,diagnosis,enzymology,pathology,diagnosis,enzymology,pathology,diagnosis,enzymology,pathology,

A novel homozygous missense variant p.D339N in the PKLR gene correlates with pyruvate k...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8848962
Journal of Medical Case Reports; Rehman AU, Rashid A et. al.

Feb 17th, 2022 - Pyruvate kinase deficiency is an exceptionally rare autosomal recessive Mendelian disorder caused by bi-allelic pathogenic variants in the PKLR gene. It is mainly characterized by chronic nonspherocytic hemolytic anemia though other symptoms such as splenomegaly, hepatomegaly, pallor, fatigue, iron overload, shortness of breath, hyperbilirubinemia, and gallstones might also prevail. We present ...

Adipose Mitochondrial Complex I Deficiency Modulates Inflammation and Glucose Homeostas...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8900697
Endocrinology Choi KM, Ryan KK et. al.

Feb 17th, 2022 - Mitochondrial dysfunction in adipose tissue has been associated with type 2 diabetes, but it is unclear whether it is a cause or the consequence. Mitochondrial complex I is a major site of reactive oxygen species generation and a therapeutic target. Here we report that genetic deletion of the complex I subunit Ndufs4 specifically in adipose tissue results in an increased propensity to develop d...