Avtor/Urednik | Al-Tawari, Asma A; Ramadan, Dina G; Neubauer, David; Cindro-Heberle, Lada; Al-Awadi, Fatema | |
Naslov | An early onset form of methylenetetrahydrofolate reductase deficiency: a report of a family from Kuwait | |
Tip | članek | |
Vir | Brain Dev | |
Vol. in št. | Letnik 24 | |
Leto izdaje | 2002 | |
Obseg | str. 304-9 | |
Jezik | eng | |
Abstrakt | 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. | |
Deskriptorji | AMINE OXIDOREDUCTASES BRAIN SKIN CHROMOSOME ABNORMALITIES INFANT, NEWBORN INFANT MAGNETIC RESONANCE IMAGING MUTATION KUWAIT CONSANGUINITY |