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

More general terms

• amino acid inborn error of metabolism

Database

• OMIM: https://mirror.omim.org/entry/603178