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Article

[A Chinese boy with methylmalonic aciduria cblB type and a novel mutation in the MMAB gene].

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics - 1 Feb 2015

Liu Yu-Peng, Wang Hai-Jun, Wu Tong-Fei, Li Xi-Yuan, Song Jin-Qing, Ding Yuan, Zhang Yao, Wang Qiao, Yang Yan-Ling

Abstract excerpt

cblB defect is a rare type of methylmalonic aciduria. In this study, a Chinese boy was diagnosed with methylmalonic aciduria cblB type and a novel mutation in the MMAB gene. The clinical presentations, blood acylcarnitines profiles, urine organic acids and genetic features of the patient were reported. The boy presented with fever, feeding difficulty and lethargy at the age of 2 months. Seven days later, he had...

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Source

Identifiers

PMID: 25760844

Genes

MMAB

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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