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

Abstract:

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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Publication status:
Published

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Publisher copy:
10.1186/1750-1172-7-31

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Journal:
Orphanet journal of rare diseases More from this journal
Volume:
7
Issue:
1
Pages:
31
Publication date:
2012-01-01
DOI:
EISSN:
1750-1172
ISSN:
1750-1172
Language:
English
Keywords:
Pubs id:
pubs:334842
UUID:
uuid:c729bd90-d457-434f-9156-cf7a4d0c617c
Local pid:
pubs:334842
Source identifiers:
334842
Deposit date:
2012-12-20

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