Treatable Intellectual Disability

l.o. MTHFR Deficiency

DIAGNOSIS

Gene
MTHFR (AR)

Diagnostic Test
Plasma Amino Acids, Plasma Total Homocysteine

Stacks Image 341

SIGNS & SYMPTOMS

Neurological
Psychosis/depression, behavioral disturbances, stroke, neuropathy, White matter abnormalities (MRIscan)

Non-Neurological
- - -

Stacks Image 342

THERAPY

Treatment
Betaine Supplements, +/-Folate, Carnitine, Methionine Supplements

Level of Evidence / Clinical Practice
4 / Standard of Care

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



Stacks Image 343
l.o. MTHFR Deficiency

Late-Onset MTHFR Deficiency

Methylene tetrahydrofolate reductase (MTHFR) deficiency affects the conversion of homocysteine to methionine and thus is characterised biochemically by elevated plasma homocysteine levels. Onset usually occurs during the first year of life with developmental delay, muscular hypotonia, apnoea, epilepsy and rapid development of extreme brain atrophy. A spectrum of late onset forms exists with various degrees of developmental delay / intellectual disability.

No information available from this source.

This disease is not (yet) listed on their website.