title: A boy with a severe phenotype of succinic semialdehyde dehydrogenase deficiency.
abstract: Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare autosomal recessive disorder affecting γ-aminobutyric acid degradation. We describe here a boy with a severe phenotype of SSADH deficiency. He was referred because of a developmental delay at 4 months of age. At the age of 8 months, severe seizures developed. The diagnosis of SSADH deficiency was confirmed by an increase in 4-hydroxybutyric acid and heteroallelic mutation in the ALDH5A1 gene. His seizures were successfully treated with high-dose phenobarbital, and the electroencephalogram (EEG) abnormalities were ameliorated. However, the patient showed a degenerative clinical course with severe neurological deficits. A magnetic resonance imaging (MRI) scan revealed abnormal high intensities in the putamina and caudate nuclei on T2-weighted images, followed by marked atrophic changes. The clinical manifestation of our patient indicates the wide variety of SSADH deficiency phenotypes.
authors: Department of Pediatrics, Juntendo University, Urayasu Hospital, Japan. yooyoo@juntendo.ac.jp
authors: Yoko
authors: Y
authors: Yamakawa
authors: Tomoyuki
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authors: Nakazawa
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authors: Ishida
authors: Nobutomo
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authors: Saito
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authors: Komatsu
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authors: Matsubara
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authors: Obinata
authors: Shinichi
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authors: Hirose
authors: Akihisa
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authors: Okumura
authors: Toshiaki
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authors: Shimizu