An early onset form of methylenetetrahydrofolate reductase deficiency: a report of a family from Kuwait.

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.

• Authors: Asma A Al Tawari, Dina G Ramadan, David Neubauer, Lada Cindro Heberle, Fatema Al Awadi
• Journal: Brain & development (Brain Dev) Vol. 24 Issue 5 Pg. 304-9 (Aug 2002) ISSN: 0387-7604 [Print] Netherlands
• PMID: 12142069 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright 2002 Elsevier Science B.V.

Chemical References

• Oxidoreductases Acting on CH-NH Group Donors
• Methylenetetrahydrofolate Reductase (NADPH2)

Topics

• Brain (pathology)
• Child, Preschool
• Chromosome Disorders (enzymology, pathology, physiopathology)
• Consanguinity
• Female
• Humans
• Infant
• Infant, Newborn
• Kuwait
• Magnetic Resonance Imaging
• Male
• Methylenetetrahydrofolate Reductase (NADPH2)
• Mutation
• Oxidoreductases Acting on CH-NH Group Donors (deficiency)
• Skin (pathology)