Arakawa's syndrome II

Arakawa's syndrome II
Other namesMethionine synthase deficiency, Tetrahydrofolate-methyltransferase deficiency syndrome, and N5-methylhomocysteine transferase deficiency.[1]
methylcobalamin

Arakawa's syndrome II[2] 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.

Presentation

This disorder causes neurological problems, including intellectual disability, 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.

Genetics

Arakawa's syndrome II has an autosomal dominant pattern of inheritance.

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.

Diagnosis

Management

Eponym

It is called "Arakawa syndrome 2" after Tsuneo Arakawa (1949–2003), a Japanese Physician.;[2][3] in this context, "Arakawa syndrome 1" refers to Glutamate formiminotransferase deficiency.

References

  1. ↑ Online Mendelian Inheritance in Man (OMIM): 156570
  2. 1 2 synd/235 at Who Named It?
  3. ↑ Arakawa T; et al. (1967). "Megaloblastic anemia and mental retardation associated with hyperfolic-acidemia: probably due to N5 methanphetimite transferase deficiency". Tohoku J. Exp. Med. 93 (1): 1–22. doi:10.1620/tjem.93.1. PMID 5300832.
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