Succinic semialdehyde dehydrogenase deficiency in a chinese boy: A novel ALDH5A1 mutation with severe phenotype

Chee Geap Tay, Hany Ariffin, Sufin Yap, Kartini Rahmat, Pavai Sthaneshwar, Lai Choo Ong

Research output: Contribution to journalArticle

5 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)927-931
Number of pages5
JournalJournal of Child Neurology
Volume30
Issue number7
DOIs
Publication statusPublished - 4 Jun 2015
Externally publishedYes

Fingerprint

Subdural Hematoma
Atrophy
Sleep
Phenotype
Mutation
Heterozygote
gamma-Aminobutyric Acid
Neurotransmitter Agents
Molecular Biology
Parents
Magnetic Resonance Imaging
Urine
Acids
Brain
Genes
succinic semialdehyde dehydrogenase deficiency
4-hydroxybutyric acid

Keywords

  • ALDH5A1 gene
  • subdural hemorrhage
  • succinic semialdehyde dehydrogenase deficiency

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health

Cite this

Succinic semialdehyde dehydrogenase deficiency in a chinese boy : A novel ALDH5A1 mutation with severe phenotype. / Tay, Chee Geap; Ariffin, Hany; Yap, Sufin; Rahmat, Kartini; Sthaneshwar, Pavai; Ong, Lai Choo.

In: Journal of Child Neurology, Vol. 30, No. 7, 04.06.2015, p. 927-931.

Research output: Contribution to journalArticle

Tay, Chee Geap ; Ariffin, Hany ; Yap, Sufin ; Rahmat, Kartini ; Sthaneshwar, Pavai ; Ong, Lai Choo. / Succinic semialdehyde dehydrogenase deficiency in a chinese boy : A novel ALDH5A1 mutation with severe phenotype. In: Journal of Child Neurology. 2015 ; Vol. 30, No. 7. pp. 927-931.
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