Renal Involvement in Methylmalonic Aciduria
نویسندگان
چکیده
منابع مشابه
Renal 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 کاملMouse 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 a patient with cobalamin A type (cblA) methylmalonic aciduria: a 42-year follow-up.
Chronic renal failure is a well-known long-term complication of methylmalonic aciduria (MMA-uria), occurring even under apparently optimal metabolic management. The onset of renal dysfunction seems to be dependent on the type of defect and vitamin B12-responsiveness. We report on a patient with a vitamin B12-responsive cobalamin A type (cblA) MMA-uria caused by a homozygous stop mutation (p.R14...
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...
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ژورنال
عنوان ژورنال: Kidney International Reports
سال: 2017
ISSN: 2468-0249
DOI: 10.1016/j.ekir.2017.04.007