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Article

Molecular and phenotypic characteristics of seven novel mutations causing branched-chain organic acidurias.

Clinical genetics - 1 Sept 2016

Stojiljkovic M, Klaassen K, Djordjevic M, Sarajlija A, Brasil S, Kecman B, Grkovic S, Kostic J, Rodriguez-Pombo P, Desviat L R, Pavlovic S, Perez B

Abstract excerpt

Specific mitochondrial enzymatic deficiencies in the catabolism of branched-chain amino acids cause methylmalonic aciduria (MMA), propionic acidemia (PA) and maple syrup urine disease (MSUD). Disease-causing mutations were identified in nine unrelated branched-chain organic acidurias (BCOA) patients. We detected eight previously described mutations: p.Asn219Tyr, p.Arg369His p.Val553Glyfs*17 in MUT,...

Read the complete abstract on PubMed

Topics

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Share to 3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide)
Share to Amino Acid Metabolism, Inborn Errors

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Amino Acids, Branched-Chain

Share to Infant, Newborn

Share to Maple Syrup Urine Disease

Share to Methylmalonyl-CoA Decarboxylase

Share to Mitochondrial Membrane Transport Proteins

Share to Protein Conformation

Source

Identifiers

PMID: 26830710
DOI: 10.1111/cge.12751

Genes

PCCB
BCKDHA
BCKDHB
MMAA

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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