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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 genes. We herein report the clinical and molecular findings of four Thai patients with PA. METHODS: Clinical findings...

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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 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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

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