Secondary acrodermatitis enteropathica‐like skin findings in a case of methylmalonic acidemia

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.