ALDH5A1

Catalyzes one step in the degradation of the inhibitory neurotransmitter gamma-aminobutyric acid (GABA).

Succinic semialdehyde dehydrogenase deficiency

SSADHD

A rare inborn error of 4-aminobutyric acid (GABA) metabolism, which leads to accumulation of 4-hydroxybutyric acid in physiologic fluids of patients. The disease is clinically characterized by developmental delay, hypotonia, intellectual disability, ataxia, seizures, hyperkinetic behavior, aggression, and sleep disturbances.

None

The disease is caused by variants affecting the gene represented in this entry.

Amino-acid degradation; 4-aminobutanoate degradation.

Belongs to the aldehyde dehydrogenase family.

Brain, pancreas, heart, liver, skeletal muscle and kidney. Lower in placenta.

• Mitochondrion

SSADH, ALDH5A1, Aldehyde dehydrogenase family 5 member A1, NAD(+)-dependent succinic semialdehyde dehydrogenase

• entrezGene:7915
• omim:610045
• swissprot:P51649

Proteins

Oncology

57215Da