Treatable Intellectual Disability

Cobalamin F Deficiency

BIOCHEMICAL DEFECT

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DIAGNOSIS

Gene
LMBRD1 (AR)

Diagnostic Test
Plasma Total Homocysteine, Urine Organic Acids

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SIGNS & SYMPTOMS

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

Non-Neurological
Pancytopenia

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THERAPY

Treatment
Hydroxycobalamin

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 F Deficiency

Cobalamin F (CblF) deficiency affects the transport of cobalamin (Cbl) across the lysosomal membrane. As a consequence Cbl cannot be converted into adenosylcobalamin (AdenoCbl) and Methylcobalamin (MeCbl) and both the methylmalonic acid and the homocysteine metabolic pathways are concerned. The few patients described with this defect had megaloblastic anemia, neutropenia, frequent infections, and developmental delay / intellectual disability

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