Late-onset methylmalonic acidemia and homocysteinemia: a case report
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چکیده
منابع مشابه
Combined 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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Introduction: methylmalonic acidemia (MMA) is a metabolic disorder and especial nutritional support has an important role in improvement of growth and development in these patients. Case presentation: A 3-month old female infant with known MMA was admitted to emergency department of Dr Sheikh Children Hospital with primary diagnosis of pneumonia and sepsis .This patient was a full term baby; MM...
متن کاملMethylmalonic 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 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: Nutrición Hospitalaria
سال: 2021
ISSN: 1699-5198,0212-1611
DOI: 10.20960/nh.03623