The Structural Basis for Methylmalonic Aciduria
نویسندگان
چکیده
منابع مشابه
Mouse Models for Methylmalonic Aciduria
Methylmalonic aciduria (MMA) is a disorder of organic acid metabolism resulting from a functional defect of methylmalonyl-CoA mutase (MCM). MMA is associated with significant morbidity and mortality, thus therapies are necessary to help improve quality of life and prevent renal and neurological complications. Transgenic mice carrying an intact human MCM locus have been produced. Four separate t...
متن کاملRenal Involvement in Methylmalonic Aciduria
True positive result denotes correct placement of hemodialysis catheter according to bubble-enhanced ultrasound and chest radiography. True negative result 1⁄4 incorrect placement of hemodialysis catheter according to bubble-enhanced ultrasound and chest radiography. False positive result 1⁄4 correct placement of hemodialysis catheter according to bubble-enhanced ultrasound not confirmed by che...
متن کاملFunctional and structural analysis of five mutations identified in methylmalonic aciduria cblB type.
ATP:cob(I)alamin adenosyltransferase (ATR, E.C.2.5.1.17) converts reduced cob(I)alamin to the adenosylcobalamin cofactor. Mutations in the MMAB gene encoding ATR are responsible for the cblB type methylmalonic aciduria. Here we report the functional analysis of five cblB mutations to determine the underlying molecular basis of the dysfunction. The transcriptional profile along with minigenes an...
متن کاملTreatment Approach of a Patient Affected by Both Argininosuccinic Aciduria and Methylmalonic Aciduria
Most of the inborn errors of metabolism (IEM) are autosomal recessively inherited and they are more frequent in the countries where consanguineous marriages are commonly practiced. Rarely, more than one IEM are seen in the siblings of one family or in the same sibling. Here we report a patient with both argininosuccinic aciduria (ASA) and methylmalonic acidemia (MMA) and our therapeutic approac...
متن کاملEarly-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 کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Journal of Biological Chemistry
سال: 2004
ISSN: 0021-9258
DOI: 10.1074/jbc.m401395200