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GTR Home > Conditions/Phenotypes > Succinate-semialdehyde dehydrogenase deficiency

Succinate-semialdehyde dehydrogenase deficiency

Synonyms
4-hydroxybutyric aciduria; Gamma-hydroxybutyricaciduria; Succinic Semialdehyde Dehydrogenase Deficiency
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Excerpted from the GeneReview: Succinic Semialdehyde Dehydrogenase Deficiency
Succinic semialdehyde dehydrogenase (SSADH) deficiency is characterized by infantile-onset hypotonia, developmental delay, cognitive impairment, expressive language deficit, and mild ataxia. Epilepsy is present in about half of affected individuals and is more common in adults. Hyperkinetic behavior, aggression, self-injurious behaviors, hallucinations, and sleep disturbances have been reported in nearly half of all affected individuals, more commonly in those who are older. Basal ganglia signs including choreoathetosis, dystonia, and myoclonus have been reported in a few individuals with earlier-onset, more severe disease. Involvement beyond the central nervous system has not been described. Individuals with SSADH deficiency typically have 4-hydroxybutyric aciduria present on urine organic acid analysis. Head MRI reveals T2 hyperintensities in multiple regions, involving the globus pallidi, cerebellar dentate nuclei, subthalamic nuclei, subcortical white matter, and brain stem, as well as cerebral and sometimes cerebellar atrophy. EEG findings include background slowing and spike discharges that are usually generalized.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
References
Chapter Notes
Authors:
Phillip L Pearl
Natrujee Wiwattanadittakul
Jean-Baptiste Roullet
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Available tests

68 tests are in the database for this condition.

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Clinical tests (67 available)

Biochemical Genetics Tests

Molecular Genetics Tests

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  • Also known as: SSADH, SSDH, ALDH5A1
    Summary: aldehyde dehydrogenase 5 family member A1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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