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Article

Clinical characteristics and mutation analysis of propionic acidemia in Thailand.

World journal of pediatrics : WJP - 1 Feb 2014

Vatanavicharn Nithiwat, Liammongkolkul Somporn, Sakamoto Osamu, Kamolsilp Mahattana, Sathienkijkanchai Achara, Wasant Pornswan

Abstract excerpt

BACKGROUND: Propionic acidemia (PA) is caused by a deficiency of propionyl CoA carboxylase. A characteristic urine organic acid profile includes 3-hydroxypropionate, methylcitrate, tiglylglycine, and propionylglycine. The diagnosis of PA is confirmed by detection of mutations in the PCCA or PCCB...

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Share to Carbon-Carbon Ligases
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Infant, Newborn

Share to Methylmalonyl-CoA Decarboxylase

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Source

Identifiers

PMID: 24464666
DOI: 10.1007/s12519-014-0454-4

Genes

PCCA
PCCB

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24464666-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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Clinical characteristics and mutation analysis of propionic acidemia in Thailand.PMID 24464666Read ↗

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