Abstract | OBJECTIVE: METHODS: A patient heterozygous for SSADH deficiency presented with absence and myoclonic seizures. EEG monitoring and enzymatic, metabolic, and molecular studies for SSADH were obtained on the patient and family members. RESULTS: EEG recordings yielded generalized 3-4 Hz spike-wave paroxysms and trains of multiple spikes in the heterozygous patient, and photosensitivity in the heterozygous patient and parent as well as in the sibling with homozygous deficiency. The heterozygous patient and parents did not manifest 4-OH-butyric aciduria but SSADH levels were low and a splice site mutation of the SSADH gene was identified in each. CONCLUSIONS: SIGNIFICANCE:
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Authors | A Dervent, K M Gibson, P L Pearl, G S Salomons, C Jakobs, C Yalcinkaya |
Journal | Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology
(Clin Neurophysiol)
Vol. 115
Issue 6
Pg. 1417-22
(Jun 2004)
ISSN: 1388-2457 [Print] Netherlands |
PMID | 15134710
(Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S.)
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Chemical References |
- Hydroxybutyrates
- 4-hydroxybutyric acid
- Aldehyde Oxidoreductases
- ALDH5A1 protein, human
- Succinate-Semialdehyde Dehydrogenase
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Topics |
- Adolescent
- Aldehyde Oxidoreductases
(deficiency, genetics)
- Amino Acid Metabolism, Inborn Errors
(complications, genetics, physiopathology)
- DNA Mutational Analysis
- Electroencephalography
- Epilepsies, Myoclonic
(etiology, genetics, physiopathology)
- Female
- Heterozygote
- Humans
- Hydroxybutyrates
(urine)
- Male
- Mutation
- Polymerase Chain Reaction
- Succinate-Semialdehyde Dehydrogenase
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