Treatable Intellectual Disability

PSAT Deficiency (Serine deficiency)

BIOCHEMICAL DEFECT

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DIAGNOSIS

Gene
PSAT1 (AR)

Diagnostic Test
CSF Amino Acids, Plasma Amino Acids

Gene Test
Orphanet
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SIGNS & SYMPTOMS

Neurological
Epilepsy, neuropathy, cerebral atrophy (MRIscan)

Non-Neurological
- - -

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THERAPY

Treatment
L-Serine & +/- Glycine Supplements

Level of Evidence
4

Clinical Practice
Standard of Care

Treatment Effect
Stabilizes clinical deterioration; improves seizure control



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PSAT Deficiency (Serine deficiency)

PSAT Deficiency (Serine Deficiency)

The key clinical findings in PSAT deficiency were quite similar to 3-PHGDH deficiency, including microcephaly and treatment-resistant seizures, but the disorders differ in the absence of cerebellar abnormalities in 3-PHDGH deficiency. (Source: Scriver's OMMBID)

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