Hereditary defect of cobalamin metabolism (homocystinuria and methylmalonic aciduria) of juvenile onset.
نویسندگان
چکیده
منابع مشابه
Early-onset combined methylmalonic aciduria and homocystinuria: neuroradiologic findings.
BACKGROUND AND PURPOSE Combined methylmalonic aciduria and homocystinuria (MMA-HC) is caused by impaired hepatic conversion of dietary cobalamin to methylcobalamin and adenosylcobalamin, resulting in decreased activity of methylmalonyl-CoA mutase and methionine synthase. Patients with the early-onset variety present within 12 months of age with severe neurologic, hematologic, and gastrointestin...
متن کاملMaculopathy and retinal degeneration in cobalamin C methylmalonic aciduria and homocystinuria.
1. George F, Brisson C, Poncelet P, et al. Rapid isolation of human endothelial cells from whole blood using S-Endo1 monoclonal antibody coupled with immunomagnetic beads: demonstration of endothelial injury after angioplasty. Thromb Haemost. 1992;67:147-153. 2. Rambaud JC, Galian A, Touchard G, et al. Digestive tract and renal small vessel hyalinosis, idiopathic nonarteriosclerotic intracerebr...
متن کاملEarly onset methylmalonic aciduria and homocystinuria cblC type with demyelinating neuropathy.
Methylmalonic aciduria and homocystinuria, cblC type, is the most common inborn error of vitamin B(12) (cobalamin) metabolism. The recent cloning of the disease gene, MMACHC, has permitted genotype-phenotype correlation. In a 1-year-old girl, compound heterozygous c.271dupA and c.616C>T mutations in MMACHC were identified as causing an early onset methylmalonic aciduria and homocystinuria, cblC...
متن کاملAbnormal Deoxyuridine Suppression Test in Congenital Methylmalonic Aciduria-Homocystinuria Without Megaloblastic Anemia: Divergent Biochemical and Morphological Bone Marrow Manifestations of Disordered Cobalamin Metabolism in Man
We studied two brothers (J.R. and M.R.) with the cobalamin D variant of congenital methylmalonic aciduria-homocystinuria. whose previously reported lack of megaloblastic anemia conflicted with current concepts of cobalamin’s role in DNA synthesis and the “methyltetrahydrofolate (MTHF) trapS’ hypothesis. Both subjects were indeed hematologically normal. although JR. had a mean corpuscular volume...
متن کاملcobalamin metabolism in man biochemical and morphological bone marrow manifestations of disordered aciduria-homocystinuria without megaloblastic anemia: divergent Abnormal deoxyuridine suppression test in congenital methylmalonic
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ژورنال
عنوان ژورنال: Journal of Neurology, Neurosurgery & Psychiatry
سال: 1996
ISSN: 0022-3050
DOI: 10.1136/jnnp.60.1.107