Succinic Semialdehyde Dehydrogenase Deficiency in a Chinese Boy

• Main Authors: Tay, C.G., Ariffin, H., Yap, S., Rahmat, K., Sthaneshwar, P., Ong, L.C.
• Format: Article
• Published: SAGE Publications (UK and US) 2015
• Subjects: R Medicine
• Online Access: http://eprints.um.edu.my/19585/; http://dx.doi.org/10.1177/0883073814540523
• Institution: Universiti Malaya

Succinic semialdehyde dehydrogenase deficiency is a rare autosomal recessive disorder affecting catabolism of the neurotransmitter gamma-aminobutyric acid (GABA), with a wide range of clinical phenotype. We report a Malaysian Chinese boy with a severe early onset phenotype due to a previously unrepo...