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VOLUME 2 , ISSUE 4 ( October-December, 2023 ) > List of Articles


Organic Acidemias: Clinical Presentation in Neonates

Monika Kaushal, Gayatri Athalye-Jape, Mohammad Mozibur Rahman, Mario Motta

Keywords : 2-methyl glutaconate, 2-oxo-3-methylvaleric acid, 2-oxoisocaproic acid,3-hydroxy propionate, 3-hydroxy-2-ethyl glutarate, 3-hydroxy-3-methylglutaryl-CoA, 3-hydroxybutyrate, 3-hydroxyisovaleric acid, 3-keto-2-methylbutyrate, 3-keto-2-methylvalerate-methyl citrate, 3-methyl crotonyl glycine, 3-methylcrotonyl-CoA carboxylase, 3-methylcrotonylglycinuria, 3-methylglutaconic aciduria, 3-OH propionic acid, Alanine, Alloisoleucine, Amish, Ammonium scavenger, Anion gap, Barth syndrome, Basal ganglion hyperdensity, Biotinidase, Biotinidase deficiency, Branched-chain amino acids, Branched-chain organic acidemias, Canadian Dariusleut-Hutterite ethnicity, Canavan disease, Carbonic anhydrase-5a deficiency, Cardiomyopathy, Carglumic acid, CbIB – disease, CbIC-disease, CbID disease, CBIE disease, CbIF disease, CbIG disease, D2-hydroxybutyric aciduria, DNAJC19 gene, Expanded newborn screening, Extrapyramidal movement disorders, Fatty acid oxidation disorder, Gas chromatography-mass spectrometry, Glutaric acidemia type 1, Gl

Citation Information : Kaushal M, Athalye-Jape G, Rahman MM, Motta M. Organic Acidemias: Clinical Presentation in Neonates. 2023; 2 (4):263-278.

DOI: 10.5005/jp-journals-11002-0080

License: CC BY-NC 4.0

Published Online: 05-01-2024

Copyright Statement:  Copyright © 2023; The Author(s).


Organic acidemias (OAs) are heritable genomic abnormalities characterized by the absence or defects in critical enzyme(s), which result in the accumulation of abnormal and toxic organic acid metabolites. These metabolites can be detected in blood and/or urine in high levels. Organic acidemias can have severe clinical manifestations, where most patients become symptomatic within the neonatal period or early infancy. Mildly affected cases may present later during adolescence or adulthood following decompensation during illness, following surgery, or with prolonged fasting. Acute clinical presentations include liver failure, lethargy, altered sensorium (encephalopathy), and/or seizures in the acute phase; subacute/delayed manifestations may include failure to thrive, developmental delay, and/or cardiomyopathy. In neonates, differential diagnoses include sepsis, metabolic disturbances, and intracranial bleeding. A high index of suspicion is essential for early, timely diagnosis. This article seeks to provide consolidated information on OAs, including pathogenesis, clinical presentation, diagnosis, and contemporary management.

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