Treatable Intellectual Disability

PHGDH Deficiency (Serine deficiency)

BIOCHEMICAL DEFECT

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DIAGNOSIS

Gene
PHGDH (AR)

Diagnostic Test
CSF Amino Acids, Plasma Amino Acids

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SIGNS & SYMPTOMS

Neurological
Epilepsy, neuropathy, cerebral atrophy (MRIscan)

Non-Neurological
Microcephaly

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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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PHGDH Deficiency

PHGDH Deficiency (Serine deficiency)

Two clinical phenotypes may be seen in patients with 3-PHGDH deficiency, a severe infantile form and an attenuated juvenile form. Patients with the infantile phenotype presents with (congenital) microcephaly, intractable seizures and severe psychomotor retardation. Children with attenuated juvenile form presents with moderate global developmental delay and absence seizures at school age. (Source: Scriver's OMMBID)

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