Author/Editor		Al-Tawari, Asma A; Ramadan, Dina G; Neubauer, David; Cindro-Heberle, Lada; Al-Awadi, Fatema
Title		An early onset form of methylenetetrahydrofolate reductase deficiency: a report of a family from Kuwait
Type		članek
Source		Brain Dev
Vol. and No.		Letnik 24
Publication year		2002
Volume		str. 304-9
Language		eng
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.
Descriptors		AMINE OXIDOREDUCTASES BRAIN SKIN CHROMOSOME ABNORMALITIES INFANT, NEWBORN INFANT MAGNETIC RESONANCE IMAGING MUTATION KUWAIT CONSANGUINITY