Last updated: May 10, 2024 Introduction to Organic Acidurias Organic aciduria (OAD) refers to a biochemically defined group of inherited metabolic diseases resulting from failure to metabolize various organic acids. The OAD can result from mutations in genes encoding...
Last Updated May 5, 2023 Introduction to Branched-Chain Amino Acid Metabolism Disorders The branched-chain amino acids are leucine, isoleucine, and valine. The catabolism of all three branched-chain amino acids (BCAA) occurs in most cells but the highest rates of...
Last Updated: September 10, 2024 Introduction to the Tyrosinemias Inherited tyrosinemias, as the name implies, are characterized by the accumulation of tyrosine in the blood and tissues. Three distinct types of tyrosinemia have been characterized, all of which are due...
Last Updated: July 12, 2023 Introduction to Glutaric Aciduria Type 1 (GA-1) Glutaric aciduria type 1 (also known as glutaric acidemia type 1) is an autosomal recessive disorder of amino acid metabolism. The disorder is the result of defects in the mitochondrial matrix...
Last Updated: May 19, 2023 Introduction to Propionic Acidemia Propionic acidemia is a member of the family of disorders termed organic acidemias. Propionic acidemia is an autosomal recessive disorder that results from mutations in either of the two genes encoding the...
Last Updated: May 19, 2023 Introduction to Isovaleric Acidemia, IVA Isovaleric acidemia (IVA) is an autosomal recessive disorder that is a member of the family of disorders referred to as the organic acidemias. Indeed, IVA was the first inborn error of metabolism to...
Last Updated: February 15, 2024 Introduction to the Methylmalonic Acidemias The methylmalonic acidemias represent a family of disorders that have in common the elevation of methylmalonic acid in the blood and urine. Some of the methylmalonic acidemias also include the...
Last Updated: May 7, 2024 Introduction to Lysinuric Protein Intolerance (LPI) Lysinuric protein intolerance (LPI: also known as hyperdibasic aminoaciduria type 2) is an autosomal recessive disorder that results from defects in the transport of cationic amino acids...
Last Updated: May 9, 2023 Introduction to Arginase Deficiency Arginase deficiency (AD) represents one of the disorders that result from defects in the processes of the urea cycle. Arginase deficiency is a rare autosomal recessive disorder. Arginase deficiency is the...
Last Updated: September 15, 2022 Introduction to Argininosuccinate Lyase Deficiency As the name implies, argininosuccinate lyase deficiency (ALD) is a disorder resulting from mutations in the gene (ASL) encoding the urea cycle enzyme, argininosuccinate lyase. The...