Skin Lesions Associated with Nutritional Management of Maple Syrup Urine Disease.

ABSTRACT:

Introduction

Maple syrup urine disease (MSUD) is an inborn error of branched chain amino acids (BCAAs) metabolism. We report an infant with MSUD who developed 2 episodes of cutaneous lesions as a result of isoleucine deficiency and zinc deficiency, respectively.

Case presentation

A 12-day-old male infant was presented with poor milk intake and lethargy. The diagnosis of MSUD was made based on clinical and biochemical data.

Management and outcome

Specific dietary restriction of BCAAs was given. Subsequently, natural protein was stopped as the patient developed hospital-acquired infections which resulted in an elevation of BCAAs. Acrodermatitis dysmetabolica developed and was confirmed to be from isoleucine deficiency. At the age of 6 months, the patient developed sever

SUBMITTER: Uaariyapanichkul J 

PROVIDER: S-EPMC5676374 | biostudies-literature | 2017

REPOSITORIES: biostudies-literature