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SSADH deficiency possibly associated with enzyme activity-reducing SNPs.

Tomoyuki Akiyama1, Hitoshi Osaka2, Hiroko Shimbo3

  • 1Department of Child Neurology, Okayama University Hospital, Japan.

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Summary

Succinic semialdehyde dehydrogenase (SSADH) deficiency diagnosis was aided by urine metabolome analysis detecting elevated gamma-hydroxybutyric acid (GHB). A novel mutation and SNPs in the ALDH5A1 gene contributed to reduced SSADH enzyme activity, explaining the patient's symptoms.

Keywords:
ALDH5A1 geneGamma-aminobutyric acidGamma-hydroxybutyric acidMetabolome analysis

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Area of Science:

  • Biochemistry
  • Genetics
  • Neuroscience

Background:

  • Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare metabolic disorder.
  • It results from impaired gamma-aminobutyric acid degradation, leading to gamma-hydroxybutyric acid (GHB) accumulation.
  • Non-specific neurological symptoms complicate SSADH deficiency diagnosis.

Observation:

  • A nine-year-old boy presented with developmental delay, autism, epilepsy, and gait disturbance.
  • Brain MRI revealed hyperintensities in basal ganglia and thalamus.
  • Urine metabolome analysis showed elevated GHB levels.

Findings:

  • Genetic analysis identified a novel missense mutation (c.1586G>A) and three activity-reducing SNPs in the ALDH5A1 gene.
  • Enzymatic assays confirmed significantly reduced SSADH activity (approximately 2% of normal).
  • The patient's clinical presentation is likely due to the combined effect of the mutation and SNPs.

Implications:

  • Urine metabolome analysis is a valuable screening tool for SSADH deficiency.
  • Early diagnosis of this underdiagnosed disorder is crucial for potential management.
  • Understanding genotype-phenotype correlations in SSADH deficiency is important for patient care.