Glutaric aciduria (GTA) type II can be seen as late onset form with myopathic phenotype. We present a case of a 19-year old female with progressive muscle weakness was admitted in intensive care unit (ICU) with respiratory failure and acute renal failure. Patient was unconscious. Pupils were anisocoric and light reflex was absent. She had hepatomegaly. The laboratory results showed a glucose le...

Late-onset glutaric aciduria type II has been described recently as a rare but treatable cause of proximal myopathy in teenagers and adults. It is an autosomal recessive disease affecting fatty acid, amino acid, and choline metabolism. This is usually a result of 2 defective flavoproteins: either electron transfer flavoprotein (ETF) or electron transfer flavoprotein-ubiquinone oxidoreductase (E...

Propionic aciduria (PA) is an autosomal recessive hereditary disease from the group of organic aciduria, caused by a deficiency propionyl-CoA carboxylase, leading to impaired metabolism methionine, threonine, valine, isoleucine, and fatty acids with odd number carbon atoms cholesterol. The neonatal form PA manifests itself during first week life, characterized acute onset crisis course, which a...