Treatable Intellectual Disability

SSADH Deficiency

DIAGNOSIS

Gene
ALDH5A1 (AR)

Diagnostic Test
Urine Organic Acids

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SIGNS & SYMPTOMS

Neurological
Behavioral disturbances, epilepsy, ataxia, white matter abnormalities (MRIscan)

Non-Neurological
- - -

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THERAPY

Treatment
Vigabatrin

Level of Evidence
4

Clinical Practice
Individual Basis

Treatment Effect
Improves behaviour & seizure control



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SSADH Deficiency

SSADH Deficiency

The 4-hydroxybutyric aciduria deficiency is a metabolic disorder with a neurological presentation ranging from mild to severe. It is a rare disease with around 350 cases reported. The most frequent symptoms are psychomotor retardation, delayed speech development, hypotonia and ataxia. (Source: Orphanet)

No information available from this source.

This disease is not (yet) listed on their website.