An early onset form of methylenetetrahydrofolate reductase deficiency: a report of a family from Kuwait |
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Authors: | Al Tawari Asma A Ramadan Dina G Neubauer David Heberle Lada Cindro Al Awadi Fatema |
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Affiliation: | Pediatric Neurology Unit, Children's Department, Al Sabah Hospital, P.O.Box 38129, 72252 Abdullah Salem, Kuwait. |
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Abstract: | 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. |
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