An early onset form of methylenetetrahydrofolate reductase deficiency: a report of a family from Kuwait.
Methylenetetrahydrofolate reductase deficiency (MTHFR) is a rare autosomal recessive disorder. There have been 68 cases reported to date in the literature [Eur J Pediatr 1998;157 (Suppl 2):S77]. It affects intracellular folate metabolism and results in homocystinuria and hypomethionemia. We report a family in which three children (two boys and one girl) died before the age of 3 months with severe MTHFR deficiency. A fourth affected boy was treated with betaine and he improved clinically and biochemically. We demonstrate the unique dermatological and brain imaging features in a kindred from Kuwait.
Al Tawari
Asma A
AA
Pediatric Neurology Unit, Children's Department, Al Sabah Hospital, P.O.Box 38129, 72252 Abdullah Salem, Kuwait.
Ramadan
Dina G
DG
Neubauer
David
D
Heberle
Lada Cindro
LC
Al Awadi
Fatema
F
D001921:Brain / Q000473:pathology*; D002675:Child, Preschool; D025063:Chromosome Disorders / Q000201:enzymology* / Q000473:pathology / Q000503:physiopathology; D003241:Consanguinity; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007730:Kuwait; D008279:Magnetic Resonance Imaging; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2); D009154:Mutation; D000587:Oxidoreductases Acting on CH-NH Group Donors / Q000172:deficiency*; D012867:Skin / Q000473:pathology*
D000587:Oxidoreductases Acting on CH-NH Group Donors; D042965:Methylenetetrahydrofolate Reductase (NADPH2)