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.

• Authors: Yusha Chen, Zhongtao Li, Chuangwen Liu, Sheng Wang
• Journal: Pediatric dermatology (Pediatr Dermatol) Vol. 39 Issue 6 Pg. 987-989 (Nov 2022) ISSN: 1525-1470 [Electronic] United States
• PMID: 35689470 (Publication Type: Case Reports, Journal Article)
• Copyright: © 2022 Wiley Periodicals LLC.

Chemical References

• Zinc

Topics

• Male
• Humans
• Amino Acid Metabolism, Inborn Errors (complications, diagnosis, genetics)
• Acrodermatitis (diagnosis, genetics)
• Zinc
• Mutation