Succinic Semialdehyde Dehydrogenase Deficiency in a Chinese Boy: A Novel ALDH5A1 Mutation With Severe Phenotype.
J Child Neurol
; 30(7): 927-31, 2015 Jun.
Article
in En
| MEDLINE
| ID: mdl-25122112
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.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Developmental Disabilities
/
Succinate-Semialdehyde Dehydrogenase
/
Amino Acid Metabolism, Inborn Errors
/
Mutation
Type of study:
Observational_studies
/
Prognostic_studies
Limits:
Humans
/
Infant
/
Male
Country/Region as subject:
Asia
Language:
En
Journal:
J Child Neurol
Journal subject:
NEUROLOGIA
/
PEDIATRIA
Year:
2015
Document type:
Article
Affiliation country: