A rare case of familial methylmalonic acidemia presenting with Acrodermatitis Enteropathica type of lesion
Journal Title: International Journal of Medical Research and Review - Year 2017, Vol 5, Issue 4
Abstract
Methylmalonic academia (MMA) is an inborn error of metabolism commonly presenting in newborns with an occurrence of 1 in 50,000 to 80,000 newborns. It has autosomal recessive mode of inheritance. It is a disorder of amino acid metabolism. MMA occurs due to defective conversion of methylmalonyl-coenzyme A (CoA) to succinyl-CoA. It presents early at around 1 month to 1 year of age. It has predominat neurologic manifestations such as seizures, developmental delay, encephalopathy, and stroke. However due to malabsorption of zinc and secondary deficiency of branched chain aminoacids it rarely presents as Acrodermatitis Enteropathica. Here we report a case of a 5 months old girl with familial MMA presenting with skin eruptions typical of Acrodermatitis Enteropathica.
Authors and Affiliations
Pradnya P. Wali, Hemant Parakh, Prashant Reddy
Keywords
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- EP ID EP272082
- DOI 10.17511/ijmrr. 2017.i04.10
- Views 122
- Downloads 0
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