3‐Hydroxyisobutyrate aciduria and mutations in the ALDH6A1 gene coding for methylmalonate semialdehyde dehydrogenase

3 hydroxyisobutyric aciduria

3 Hydroxyisobutyric aciduria is a rare metabolic disorder in which the body is unable to metabolize certain amino acids.

Aldehyde dehydrogenase 6 family, member A1

Methylmalonate-semialdehyde dehydrogenase, mitochondrial (MMSDH) is an enzyme that in humans is encoded by the ALDH6A1 gene.