Outcomes of cases with 3-methylcrotonyl-CoA carboxylase (3-MCC) deficiency - Report from the Inborn Errors of Metabolism Information System.

ABSTRACT:

Introduction

3-Methyl crotonyl CoA carboxylase (3MCC) deficiency is an inborn error of leucine metabolism whose detection was increased with the advent of expanded newborn screening. While most NBS-identified infants appear clinically normal, prior studies suggest a possible increased risk for developmental or metabolic abnormalities. As yet, no predictive markers are known that can identify children at risk for biochemical or developmental abnormalities.

Method

All available 3-MCC cases diagnosed by newborn screening in the Inborn Errors of Metabolism Information System (IBEM-IS) were reviewed for markers that might be predictive of outcome.

Results

A limited number of cases were identified with traditional biochemical symptoms including acidosis, hyperammonemia or l

SUBMITTER: Forsyth R 

PROVIDER: S-EPMC5540133 | biostudies-literature | 2016 May

REPOSITORIES: biostudies-literature