3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals.

Journal article

BACKGROUND: Isolated 3-methylcrotonyl-CoA carboxylase (MCC) deficiency is an autosomal recessive disorder of leucine metabolism caused by mutations in MCCC1 or MCCC2 encoding the α and β subunit of MCC, respectively. The phenotype is highly variable ranging from acute neonatal onset with fatal outcome to asymptomatic adults. METHODS: We report clinical, biochemical, enzymatic and mutation data of 88 MCC deficient individuals, 53 identified by newborn screening, 26 diagnosed due to clinical sy...

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Authors: Grünert, S; Stucki, M; Morscher, R; Suormala, T; Bürer, C

• Publication status: Published
• Journal: Orphanet journal of rare diseases
• Volume: 7
• Issue: 1
• Pages: 31
• Publication date: 2012-01-01
• DOI: 10.1186/1750-1172-7-31
• EISSN: 1750-1172
• ISSN: 1750-1172
• Language: English
• Keywords: Cell Line; Urea Cycle Disorders, Inborn; Carbon-Carbon Ligases; Child, Preschool; Child; Questionnaires; Humans; Polymerase Chain Reaction; Female; Male; Infant