Treatable Intellectual Disability

PSPH Deficiency (Serine deficiency)

BIOCHEMICAL DEFECT

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DIAGNOSIS

Gene
PSPH (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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PSPH Deficiency

PSPH Deficiency (Serine Deficiency)

Defects in PSPH are the cause of 3-phosphoserine phosphatase deficiency. Affected individuals have pre- and postnatal growth retardation, moderate psychomotor retardation and facial features suggestive of Williams syndrome (Source: Genetics Home Reference)

No information available from this source.

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