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Brain damage by mild metabolic derangements in methylmalonic acidemia.

Pediatric neurology - 1 Nov 2008

Lee Ni-Chung, Chien Yin-Hsiu, Peng Shinn-Forng, Huang Ai-Chu, Liu Tze-Tze, Wu Ariel Sing-Huei, Chen Li-Chu, Hsu Li-Wen, Tseng Shih-Chuan, Hwu Wuh-Liang

Abstract excerpt

Methylmalonic acidemia caused by an l-methylmalonyl-CoA mutase deficiency. The mut(0) type is associated with significant mortality and morbidity, but tandem mass spectrometry has made early detection possible. Five patients were identified through newborn screening for elevated propionylcarnitine (C3-carnitine) levels. These patients received a positive screening result at a median age of 10 days (range, 5-18...

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Identifiers

PMID: 18940555
DOI: 10.1016/j.pediatrneurol.2008.07.018

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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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