Arakawa's syndrome II

Arakawa's syndrome II
Other names	Methionine synthase deficiency, Tetrahydrofolate-methyltransferase deficiency syndrome, and N5-methylhomocysteine transferase deficiency.
methylcobalamin

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.

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.; in this context, "Arakawa syndrome 1" refers to Glutamate formiminotransferase deficiency.

External links

• Arakawa's syndrome 2 at NIH's Office of Rare Diseases