Treatable Intellectual Disability

Cobalamin E Deficiency

BIOCHEMICAL DEFECT

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DIAGNOSIS

Gene
MTRR (AR)

Diagnostic Test
Plasma Total Homocysteine

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SIGNS & SYMPTOMS

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

Non-Neurological
Macrocytic anemia

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THERAPY

Treatment
Hydroxy- / Methylcobalamin, Betaine

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 E Deficiency

Cobalamin E (CblE) and Cobalamin G (CblG) deficiency both result in deficient synthesis of Methylcobalamin (MeCbl) which is essential for the conversion of homocysteine into methionine. Clinical features include megaloblastic anemia, failure to thrive, developmental delay, intellectual disability, ataxia, seizures and blindness. hyperhomocysteinemia is the biochemical hallmark.

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