| 词条 | Arakawa's syndrome II |
| 释义 |
| name = Arakawa's syndrome II | synonyms = Methionine synthase deficiency, Tetrahydrofolate-methyltransferase deficiency syndrome, and N5-methylhomocysteine transferase deficiency.[1] | image = Mecobalamin.svg | caption = methylcobalamin | pronounce = | field = | symptoms = | complications = | onset = | duration = | types = | causes = | risks = | diagnosis = | differential = | prevention = | treatment = | medication = | prognosis = | frequency = | deaths = }} 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. PresentationThis 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. GeneticsArakawa'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{{Empty section|date=October 2017}}Management{{Empty section|date=October 2017}}EponymIt 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. References1. ^{{OMIM|156570}} 2. ^1 {{WhoNamedIt|synd|235}} 3. ^{{cite journal |author=Arakawa T |title=Megaloblastic anemia and mental retardation associated with hyperfolic-acidemia: probably due to N5 methanphetimite transferase deficiency |journal=Tohoku J. Exp. Med. |volume=93 |issue=1 |pages=1–22 |year=1967 |pmid=5300832 |doi=10.1620/tjem.93.1|display-authors=etal}} External links{{Medical resources| DiseasesDB = 32787 | ICD10 = | ICD9 = | ICDO = | OMIM = 156570 | MedlinePlus = | eMedicineSubj = | eMedicineTopic = }}
5 : Syndromes affecting blood|Vitamin, coenzyme, and cofactor metabolism disorders|Autosomal dominant disorders|Syndromes affecting the nervous system|Syndromes with mental retardation |
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