A Methylmalonic Acidemia Case Presenting with Acrodermatitis Enteropathica
نویسندگان
1 Student research committee, faculty of medicine, Mashhad university of medical sciences, Mashhad, IRAN
2 Department of pediatric endocrinology, Imam Reza Hospital, Mashhad University of Medical Sciences, Mashhad, Ira
doi
10.22038/ijp.2014.2776چکیده
We encountered a patient with methylmalonic aciduria associated with skin lesions resembling acrodermatitis enteropathica. This child was being fed with a low-protein diet when the skin disorder developed. A deficiency in plasma levels isoleucine, was confirmed. Supplementation of a high-caloric, protein-rich diet led to a prompt improvement of skin lesions. We assume that in our patient the skin lesions were the result of malnutrition, rather than being primarily associated with the underlying metabolic disease. To our knowledge, few reports are so far available concerning methylmalonic aciduria complicated by skin eruptions.
