Arakawa's syndrome II
|Arakawa's syndrome II|
|Classification and external resources|
Arakawa's syndrome II is an autosomal dominant metabolic disorder that causes a deficiency of the enzyme tetrahydrofolate-methyltransferase; affected individuals cannot properly metabolize methylcobalamin, a type of Vitamin B12.
Arakawa's syndrome II is inherited in an autosomal dominant manner. This means the defective gene responsible for disorder is located on an autosome, and one copy of the defective gene is sufficient to cause the disorder when inherited from a parent who has the disorder.
- synd/235 at Who Named It?
- Online 'Mendelian Inheritance in Man' (OMIM) 156570
- Arakawa T, et al. (1967). "Megaloblastic anemia and mental retardation associated with hyperfolic-acidemia: probably due to N5 methyltetrahydrofolate transferase deficiency". Tohoku J. Exp. Med. 93 (1): 1–22. doi:10.1620/tjem.93.1. PMID 5300832.
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