Treatable Intellectual Disability

Cobalamin D Deficiency

BIOCHEMICAL DEFECT

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DIAGNOSIS

Gene
MMADHC (AR)

Diagnostic Test
Plasma Total Homocysteine, Urine Organic Acids

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SIGNS & SYMPTOMS

Neurological
Psychosis/depression, stroke, ataxia, dystonia, spasticity

Non-Neurological
- - -

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THERAPY

Treatment
Hydroxy- / Cyanocobalamin

Level of Evidence
4

Clinical Practice
Standard of Care

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



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Cobalamin D Deficiency

Cobalamin D (CblD) deficiency can cause either deficient synthesis of AdenoCbl and MeCbl together or either in isolation, depending on the site of the mutation on this multifunctional protein. accordingly patients may have combined methylmalonic acidemia and homocysteinemia or either in isolation. Clinical phenotypes include intellectual disability and behavior problems as well as severe neonatal onset forms.

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