Optic neuropathy in methylmalonic acidemia and propionic acidemia
نویسندگان
چکیده
منابع مشابه
Optic neuropathy in methylmalonic acidemia and propionic acidemia.
BACKGROUND Methylmalonic acidemia (MMA) and propionic acidemia (PA) are rare hereditary disorders of protein metabolism, manifesting early in life with ketoacidosis and encephalopathy and often resulting in chronic complications. Optic neuropathy (ON) has been increasingly recognised in both conditions, mostly through isolated case reports or small cases series. We here report the clinical feat...
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 کاملSecondary Hemophagocytosis in Propionic Acidemia
1Department of Pediatric Metabolism and Nutrition, Diyarbakir Children’s Hospital, Diyarbakir, Turkey 2Pediatric Intensive Care Unit, Diyarbakir Children’s Hospital, Diyarbakir, Turkey 3Department of Pediatric Hematology and Oncology, Diyarbakir Children’s Hospital, Diyarbakir, Turkey 4Department of Pediatric Endocrinology, Diyarbakır Children’s Hospital, Diyarbakir, Turkey 5Department of Pedia...
متن کاملPropionic acidemia in the newborn.
Propionic acidemia is a rare, autosomal, recessively inherited inborn error of propionate metabolism. It presents most often as a neonatal life threatening emergency with metabolic acidosis, hyperammonemia, hyperglycinemia and hyper gylcinuria. Since its first description in a male infant with episodic metabolic acidosis and hyperglycinemia(l), more than 100 cases have been reported. The presen...
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ژورنال
عنوان ژورنال: British Journal of Ophthalmology
سال: 2015
ISSN: 0007-1161,1468-2079
DOI: 10.1136/bjophthalmol-2015-306798