Pulmonary embolism in a child with combined methylmalonic acidemia and homocystinuria
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 کاملMassive Pulmonary Embolism in a Patient with Undiagnosed Homocystinuria
Background: Homocystinuria is an autosomal recessively inherited defect of methionine catabolism. This rare condition causes abnormal accumulation of homocysteine in the blood and urine that is not typically found in significant quantities. While elevated homocysteine levels can cause damage to multiple organ systems, they most often affect the cardiovascular, musculoskeletal, ocular, and centr...
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 کاملA Methylmalonic Acidemia Case Presenting with Acrodermatitis Enteropathica
We encountered a patient with methylmalonic aciduria associated with skin lesions resembling acrodermatitis enteropathica. This child was being fed with a low-protein diet when the skin disorder developed. A deficiency in plasma levels isoleucine, was confirmed. Supplementation of a high-caloric, protein-rich diet led to a prompt improvement of skin lesions. We assume that in our patient the sk...
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ژورنال
عنوان ژورنال: Pediatric Investigation
سال: 2018
ISSN: 2574-2272
DOI: 10.1002/ped4.12047