Long-term renal outcome in methylmalonic acidemia in adolescents and adults

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 ...

Methylmalonic 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...

the effects of keyword and context methods on pronunciation and receptive/ productive vocabulary of low-intermediate iranian efl learners: short-term and long-term memory in focus

از گذشته تا کنون، تحقیقات بسیاری صورت گرفته است که همگی به گونه ای بر مثمر ثمر بودن استفاده از استراتژی های یادگیری لغت در یک زبان بیگانه اذعان داشته اند. این تحقیق به بررسی تاثیر دو روش مختلف آموزش واژگان انگلیسی (کلیدی و بافتی) بر تلفظ و دانش لغوی فراگیران ایرانی زیر متوسط زبان انگلیسی و بر ماندگاری آن در حافظه می پردازد. به این منظور، تعداد شصت نفر از زبان آموزان ایرانی هشت تا چهارده ساله با...

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...

Association of Methylmalonic Acidemia and Erythema Nodosum