About 1,370 results

ALLMedicine™ Inborn Errors Of Metabolism Center

Research & Reviews  520 results

COVID-19 triggered encephalopathic crisis in a patient with glutaric aciduria type 1.
Journal of Pediatric Endocrinology & Metabolism : JPEM; Zubarioglu T, Ahmadzada S et. al.

Sep 14th, 2021 - The impact of coronavirus disease-19 (COVID-19) on metabolic outcome in patients with inborn errors of metabolism has rarely been discussed. Herein, we report a case with an acute encephalopathic crisis at the course of COVID-19 disease as the fir...

The effects of the COVID-19 pandemic on patients with lysosomal storage disorders in Is...
Orphanet Journal of Rare Diseases; Kristal E, Pode-Shakked B et. al.

Sep 10th, 2021 - Severe acute respiratory syndrome coronavirus 2 (SARS CoV-2) is the causative agent of the current COVID-19 pandemic. Lysosomal storage disorders (LSD) comprise of 70 inherited inborn errors of metabolism. Affected individuals suffer from multi-sy...

Neonatal seizures as onset of Inborn Errors of Metabolism (IEMs): from diagnosis to tre...
https://doi.org/10.1007/s11011-021-00798-1 10.1016/j.bone.2007.01.020 10.1016/S0920-1211(00)00184-4 10.1542/peds.2014-2423 10.4274/balkanmedj.2016.1376 10.1016/j.yebeh.2020.107361 10.1016/j.braindev.2017.07.015 10.24953/turkjped.2019.04.019 10.1016/j.braindev.2019.03.015 10.1016/j.seizure.2018.02.014 10.21037/atm-20-392a 10.1111/epi.16857 10.1055/s-2008-1071531
Metabolic Brain Disease; Falsaperla R, Sciuto L et. al.

Aug 18th, 2021 - Neonatal seizures (NS) occur in the first 28 days of life; they represent an important emergency that requires a rapid diagnostic work-up to start a prompt therapy. The most common causes of NS include: intraventricular haemorrhage, hypoxic-ischem...

Schizophreniform presentation and abrupt neurologic decline in a patient with late-onse...
Psychiatric Genetics; Montenegro YHA, Baldo G et. al.

Aug 5th, 2021 - Due to their low frequency and some atypical presentations, inborn errors of metabolism are frequently misdiagnosed or underdiagnosed, which hinders the correct management of these patients. To illustrate that, here we present a patient that, at e...

Following Patients With Inborn Errors of Metabolism: What Do We Value and How Do We Know?
Pediatrics Brosco JP, Hinton CF

Jul 17th, 2021 - Following Patients With Inborn Errors of Metabolism: What Do We Value and How Do We Know?|2021|Brosco JP,Hinton CF,|

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Guidelines  4 results

ACOG Committee Opinion No. 771: Umbilical Cord Blood Banking.
Obstetrics and Gynecology;

Feb 26th, 2019 - Since the first successful umbilical cord blood transplant in 1988, it has been estimated that more than 35,000 transplants have been performed in children and adults for the correction of inborn errors of metabolism, hematopoietic malignancies, a...

Laboratory analysis of organic acids, 2018 update: a technical standard of the American...
https://doi.org/10.1038/gim.2018.45 10.1007/s10545-008-0986-7 10.1007/s10545-016-9941-1 10.1007/978-94-009-5778-7 10.3109/10408369509084689 10.1542/peds.105.1.e10 10.1373/clinchem.2009.131300 10.1007/s10545-011-9423-4 10.7861/clinmedicine.16-6-524 10.1007/8904_2016_25 10.1007/8904_2016_537 10.5339/qmj.2015.9 10.1016/j.clinbiochem.2013.08.009 10.1016/j.ymgme.2014.07.018 10.1038/gim.2017.61 10.1016/j.ymgme.2012.10.019 10.1016/0009-8981(91)90355-G 10.1007/978-1-60761-459-3_41 10.1016/j.cca.2008.02.025 10.1016/0378-4347(91)80571-S 10.1620/tjem.237.235 10.1007/s10545-007-0767-8 10.1016/j.jchromb.2004.03.048 10.1016/0378-4347(92)80256-P 10.1007/s10545-008-1025-4 10.1016/j.ymgme.2012.05.024 10.1111/cge.12297 10.1016/j.cca.2011.09.008 10.1016/j.ymgme.2005.09.007 10.1038/ng.908 10.1016/j.ymgme.2015.06.008 10.1007/s10545-014-9801-9 10.1016/j.ymgmr.2016.09.001 10.1007/8904_2016_536 10.1016/j.ymgme.2016.03.001 10.1007/s10545-010-9242-z 10.1016/j.ymgme.2010.04.014 10.1373/clinchem.2004.043265 10.1016/j.mito.2010.02.006 10.1016/S0022-3476(89)80706-1 10.1007/s10545-007-0396-2
Genetics in Medicine : Official Journal of the American C... Gallagher RC, Pollard L et. al.

Mar 16th, 2018 - Organic acid analysis detects accumulation of organic acids in urine and other body fluids and is a crucial first-tier laboratory test for a broad spectrum of inborn errors of metabolism. It is also frequently ordered as follow-up for a positive n...

Good laboratory practices for biochemical genetic testing and newborn screening for inh...
MMWR. Recommendations and Reports : Morbidity and Mortali...

Apr 6th, 2012 - Biochemical genetic testing and newborn screening are essential laboratory services for the screening, detection, diagnosis, and monitoring of inborn errors of metabolism or inherited metabolic disorders. Under the Clinical Laboratory Improvement ...

National academy of clinical biochemistry laboratory medicine practice guidelines: foll...
Clinical Chemistry; Dietzen DJ, Rinaldo P et. al.

Jul 4th, 2009 - Almost all newborns in the US are screened at birth for multiple inborn errors of metabolism using tandem mass spectrometry. Screening tests are designed to be sufficiently sensitive so that cases are not missed. The NACB recognized a need for sta...

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Drugs  10 results see all →

News  13 results

Rising microbiome investigator: Ting-Chin David Shen, MD, PhD

Sep 28th, 2018 - We spoke with Dr. Shen, instructor of medicine at the University of Pennsylvania and the recipient of the AGA Research Foundation’s 2016 Microbiome Junior Investigator Award, to learn about his passion for gut microbiome research.

Allele-matching in cord blood transplant yields better survival
Thomas R. Collins

Jul 20th, 2017 - Matching down to the allele level in umbilical cord blood transplantation between unrelated donors results in greater overall survival for those with nonmalignant diseases, such as aplastic anemia, researchers found in a retrospective study publis.

Dark spots on child’s back
The Journal of Family Practice;

Jul 10th, 2015 - The FP recognized this as a case of dermal melanocytosis, also known as Mongolian spots. She reassured the mother that the spots would fade over time and were not dangerous.

Genetic tests for children with intellectual disability or global developmental delays

Apr 8th, 2015 - A new clinical report from the American Academy of Pediatrics (AAP) makes recommendations regarding the clinical genetics diagnostic approach for children with intellectual disability (ID) or global developmental delays (GDDs). Chromosome microarr.

Positive Newborn Screen for MCAD -- Now What?

Jul 10th, 2014 - Genetic Diagnosis and Counseling MCAD deficiency, like other inborn errors of metabolism, is increasingly recognized not as a dichotomous condition but rather as a spectrum of enzyme deficiency states caused by different mutations in the ACADM gen...

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Patient Education  1 results see all →