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Summary
COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA (CIMAH)
METHYLENETETRAHYDROFOLATE DEHYDROGENASE 1 DEFICIENCY
617780
OMIM = Online Medalian Inheritance of Men
14q23.3
rare
autosomal recessive
mutation in the MTHFD1 gene
symptoms
anemia
cirrhosis or fibrosis of liver
hearing defect, deafness
immunodeficiency
infections (respiratory tract/system)
mental retardation
onset, childhood
onset, infancy
retinopathy
seizures
skin rash, eczematous or seborrhoic
thrombopenia, thrombocytopenia
vomiting
laboratory finding
Homocysteine increasedserum
Methylmalonic acid mmol/lplasma
Literature
Santra S,et al.Long-term outcome of isobutyryl-CoA dehydrogenase deficiency diagnosed following an episode of ketotic hypoglycaemiaMol Genet Metab Rep10028-302016
Ghanem CI,et al.Acetaminophen from liver to brain: New insights into drug pharmacological action and toxicityPharmacol Res1090119-1312016