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Expanding the genetic and phenotypic spectrum of branched‐chain amino acid transferase 2 (BCAT2) deficiency

Abstract:

Background The first step in branched‐chain amino acid (BCAA) catabolism is catalyzed by the two BCAA transferase isoenzymes, cytoplasmic branched‐chain amino acid transferase (BCAT) 1 and mitochondrial BCAT2. Defects in the second step of BCAA catabolism cause Maple Syrup Urine Disease (MSUD), a condition which has been far more extensively investigated. Here, we studied the consequences of BCAT2 deficiency, an ultra‐rare condition in humans.

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Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.1002/jimd.12135

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Role:
Author
ORCID:
0000-0002-4015-0658
Publisher:
Wiley
Journal:
Journal of Inherited Metabolic Disease More from this journal
Publication date:
2019-06-08
Acceptance date:
2019-06-07
DOI:
EISSN:
1573-2665
ISSN:
0141-8955
Pmid:
31177572
Language:
English
Keywords:
Pubs id:
pubs:1017325
UUID:
uuid:fe13ef9b-1802-4e15-8a6d-3066afbfeecd
Local pid:
pubs:1017325
Source identifiers:
1017325
Deposit date:
2019-07-11

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