肠病性肢端皮炎
甲基丙二酸血症
医学
遗传学
先证者
红皮病
无义突变
甲基丙二酸尿症
皮肤病科
钴胺素
错义突变
突变
生物
维生素B12
内科学
病理
缺锌(植物性疾病)
基因
微量营养素
作者
Yusha Chen,Zhongtao Li,Chuangwen Liu,Sheng Wang
摘要
Abstract Methylmalonic acidemia (MMA) is an autosomal recessive genetic disorder caused by decreased activity of methylmalonyl‐CoA mutase or metabolic disturbance of its coenzyme cobalamin, cutaneous manifestations are rare clinical signs in this disease. Herein, we describe a Chinese boy with MMA fed with a formula lacking branched‐chain amino acids presenting with erythroderma and acrodermatitis enteropathica‐like rash, a homozygous nonsense mutation c.742C>T (p.Gln248*) was identified in the MMAA gene. The pedigree exhibited a non‐Mendelian inheritance pattern which was attributed to maternal uniparental disomy on chromosome 4q26‐q34.1 of the proband, confirmed by chromosomal microarray analysis. Our case highlights the association between skin changes and nutritional deficiency due to therapeutic amino acid restrictions in MMA.
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