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Arakawa's syndrome II
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Arakawa's syndrome II : ウィキペディア英語版
Arakawa's syndrome II

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.
It is also called Methionine synthase deficiency, Tetrahydrofolate-methyltransferase deficiency syndrome, and N5-methylhomocysteine transferase deficiency.
==Characteristics==
This disorder causes neurological problems, including mental retardation, brain atrophy and ventricular dilation, myoclonus, hypotonia, and epilepsy.
It is also associated with growth retardation, megaloblastic anemia, pectus excavatum, scoliosis, vomiting, diarrhea, and hepatosplenomegaly.

抄文引用元・出典: フリー百科事典『 ウィキペディア(Wikipedia)
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