Treatable Intellectual Disability

Homocystinuria

BIOCHEMICAL DEFECT

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DIAGNOSIS

Gene
CBS (AR)

Diagnostic Test
Plasma Total Homocysteine, Urine Organic Acids

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SIGNS & SYMPTOMS

Neurological
Psychosis/depression, behavioral disturbances, stroke, dystonia

Non-Neurological
Marfanoid habitus, ectopia lentis, osteoporosis, thromboembolic

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THERAPY

Treatment
Methionine Restriction, +/-Pyridoxine, +/- Betaine

Level of Evidence
2c

Clinical Practice
Standard of Care

Treatment Effect
Prevents metabolic decompensation; stabilizes clinical deterioration; improves systemic manifestations

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Homocystinuria

Classical homocystinuria due to cystathionine beta-synthase (CbS) deficiency is characterized by the multiple involvement of the eye, skeleton, central nervous system, and vascular system. More recently, screening based on CbS mutations has led to reported incidences as high as 1 in 20,000. Patients are normal at birth and, if left untreated, the disease course is progressive. (Source: Orphanet)

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