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methylmalonate semialdehyde dehydrogenase deficiency
Genetics:
- associated with defects in ALDH6A1
Laboratory:
- elevated beta-alanine, 3-hydroxypropionic acid, & both isomers of 3-amino & 3-hydroxyisobutyric acids in urine
General
amino acid inborn error of metabolism
Database Correlations
OMIM 603178
MORBIDMAP 603178
References
OMIM :accession 603178