Tay, C.G. and Ariffin, H. and Yap, S. and Rahmat, K. and Sthaneshwar, P. and Ong, L.C. (2015) Succinic Semialdehyde Dehydrogenase Deficiency in a Chinese Boy. Journal of Child Neurology, 30 (7). pp. 927-931. ISSN 0883-0738, DOI https://doi.org/10.1177/0883073814540523.
Full text not available from this repository.Abstract
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 unreported mutation. Urine organic acid chromatogram revealed elevated 4-hydroxybutyric acid. Magnetic resonance imaging (MRI) of the brain demonstrated cerebral atrophy with atypical putaminal involvement. Molecular genetic analysis showed a novel homozygous 3-bp deletion at the ALDH5A1 gene c.1501-1503del (p.Glu501del). Both parents were confirmed to be heterozygotes for the p.Glu501del mutation. The clinical course was complicated by the development of subdural hemorrhage probably as a result of rocking the child to sleep for erratic sleep-wake cycles. This case illustrates the need to recognize that trivial or unintentional shaking of such children, especially in the presence of cerebral atrophy, can lead to subdural hemorrhage.
| Item Type: | Article |
|---|---|
| Funders: | UNSPECIFIED |
| Uncontrolled Keywords: | Succinic semialdehyde dehydrogenase deficiency; Subdural hemorrhage; ALDH5A1 gene |
| Subjects: | R Medicine |
| Divisions: | Faculty of Medicine |
| Depositing User: | Ms. Juhaida Abd Rahim |
| Date Deposited: | 03 Oct 2018 09:02 |
| Last Modified: | 03 Oct 2018 09:02 |
| URI: | http://eprints.um.edu.my/id/eprint/19585 |
Actions (login required)
 |
View Item |
