Arakawa's syndrome II
A congenital syndrome of tetrahydrofolate methyltransferase deficiency.
An inborn error of methylcobalamin metabolism with a deficiency of the enzyme tetrahydrofolate-methyltransferase. It is associated with mental and growth retardation, megaloblastic anaemia, vomiting, diarrhoea, pallor, pectus excavatum, scoliosis, hypotonia, hepatosplenomegaly, Neurological complications include myoclonus brain atrophy and ventricular dilation, epilepsy, EEG abnormalities, and seizures. Inheritance is autosomal dominant.
- T. Arakawa, et al:
Megaloblastic anaemia and mental retardation associated with hyperfolicacidaemia. Probably due to N-5 methyltetrahydrofolate transferase deficiency.
Tohoku Journal of Experimental Medicine, Sendai, 1967, 93: 1-22.
What is an eponym?
An eponym is a word derived from the name of a person, whether real or fictional. A medical eponym is thus
any word related to medicine, whose name is derived from a person.
What is Whonamedit?
Whonamedit.com is a biographical dictionary of medical eponyms.
It is our ambition to present a complete survey of all medical phenomena named for a person,
with a biography of that person.
Whonamedit? does not give medical advice.
This survey of medical eponyms and the persons behind them is meant as a general interest site only.
No information found here must under any circumstances be used for medical purposes, diagnostically,
therapeutically or otherwise. If you, or anybody close to you, is affected, or believe to be
affected, by any condition mentioned here: see a doctor.