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<p>Methylmalonic acidemia (MMA) is a rare autosomal recessive inborn error of metabolism characterized by the accumulation of methylmalonic acid due to a defect in the conversion of methylmalonyl-CoA to succinyl-CoA.</p><p>We report the case of a one-year-old male child with a known diagnosis of MMA, who developed periorificial, truncal and acral dermatitis closely resembling acrodermatitis enteropathica (AE) while on a protein-restricted metabolic diet. The skin lesions were sharply demarcated, erythematous, and crusted, with involvement of perianal, perioral, trunk and acral regions. The diagnosis of MMA was based on Genetic analysis through Whole exome sequencing which revealed a homozygous frameshift variant [c.708_714del (p.Tyr236Ter)] at exon 4 of MMAA gene.</p><p>To the best of our knowledge, only four such cases of MMA with skin manifestations have been documented in the literature, of which only two cases provide precise genetic characterization. All four cases reported were from outside India. Here we describe the genetically confirmed case of MMA with cutaneous manifestations probably first to be reported from India. The present case thus expands the scarce body of genetically delineated MMA cases presenting with cutaneous manifestations and may offer valuable insights into emerging genotype–phenotype correlations, potentially informing future diagnostic and therapeutic approaches.</p>

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‘Acrodermatitis enteropathica-like dermatitis’ as the manifestation of methylmalonic acidemia: a case report and review of literature

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  • 发表日期：

    2026年2月18日

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  • Samruddhi Tarodkar,
  • Bhushan Darkase,
  • Ketki Chavanda,
  • Ajay Ovhal

摘要

Methylmalonic acidemia (MMA) is a rare autosomal recessive inborn error of metabolism characterized by the accumulation of methylmalonic acid due to a defect in the conversion of methylmalonyl-CoA to succinyl-CoA.

We report the case of a one-year-old male child with a known diagnosis of MMA, who developed periorificial, truncal and acral dermatitis closely resembling acrodermatitis enteropathica (AE) while on a protein-restricted metabolic diet. The skin lesions were sharply demarcated, erythematous, and crusted, with involvement of perianal, perioral, trunk and acral regions. The diagnosis of MMA was based on Genetic analysis through Whole exome sequencing which revealed a homozygous frameshift variant [c.708_714del (p.Tyr236Ter)] at exon 4 of MMAA gene.

To the best of our knowledge, only four such cases of MMA with skin manifestations have been documented in the literature, of which only two cases provide precise genetic characterization. All four cases reported were from outside India. Here we describe the genetically confirmed case of MMA with cutaneous manifestations probably first to be reported from India. The present case thus expands the scarce body of genetically delineated MMA cases presenting with cutaneous manifestations and may offer valuable insights into emerging genotype–phenotype correlations, potentially informing future diagnostic and therapeutic approaches.