1291: Recurrent Acidosis in a Pediatric Patient as a Presentation of Late-Onset Methylmalonic Acidemia
نویسندگان
چکیده
منابع مشابه
Methylmalonic acidemia
The authors provide an overview of the hereditary methylmalonic acidemias, a group of metabolic disorders with varied clinical presentations. This includes the most severe form of L-methylmalonyl-CoA mutase deficiency, termed mut(o) methylmalonic acidemia, which, together with the less severe deficiencies of L-methylmalonyl-CoA mutase, are the most common causes of methylmalonic acidemia. They ...
متن کاملMethylmalonic Acidemia.
Methylmalonic Acidemia (MMA) is an inborn error of metabolism that results in accumulation of methylmalonic acid in blood and increased excretion in urine. The effects of MMA vary from mild to life threatening and it usually presents in early infancy. Affected infants can have vomiting, dehydration, hypotonia, developmental delay and failure to thrive. The emergency treatment of the newborn wit...
متن کاملa cross-comparative dtudy between two textbook series in terms of the presentation of politeness
چکیده ندارد.
15 صفحه اولEarly Liver Transplantation for Neonatal-Onset Methylmalonic Acidemia.
With conventional dietary treatment, the clinical course of methylmalonic acidemia due to cobalamin-unresponsive methylmalonyl-CoA mutase (MCM) deficiency is characterized by the persistent risk of recurrent life-threatening decompensation episodes with metabolic acidosis, hyperammonemia, and coma. Liver transplant has been proposed as an alternative treatment and anecdotally attempted in the l...
متن کاملCombined methylmalonic acidemia and homocysteinemia presenting predominantly with late-onset diffuse lung disease: a case series of four patients
Combined methylmalonic acidemia (MMA) and homocysteinemia are a group of autosomal recessive disorders caused by inborn errors of cobalamin metabolism, including CblC, D, F, and J, with cblC being the most common subtype. The clinical manifestations of combined MMA and homocysteinemia vary, but typically include neurologic, developmental and hematologic abnormalities.We report 4 children with c...
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ژورنال
عنوان ژورنال: Critical Care Medicine
سال: 2020
ISSN: 0090-3493
DOI: 10.1097/01.ccm.0000731052.25185.e5