A NovelMUTGene Mutation Detected in a Female Infant with Methylmalonic Acidemia
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چکیده
منابع مشابه
A 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...
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 کاملImprovement in Growth and Developmental Milestones with Nutritional Intervention in Methylmalonic Acidemia: A Case Report
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 with Novel MUT Gene Mutations
A 5-year-old boy presented with recurrent episodes of fever, feeding problems, lethargy, from the age of 11 months, and poor weight gain. He was admitted and evaluated for metabolic causes and diagnosed as having methylmalonic acidemia (MMA). He was treated with vit B12 and carnitine supplements and has been on follow-up for the last 3 years. Mutation analysis by next generation sequencing (NGS...
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ژورنال
عنوان ژورنال: Neonatal Medicine
سال: 2015
ISSN: 2287-9412,2287-9803
DOI: 10.5385/nm.2015.22.1.51