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Branched-chain keto acid dehydrogenase kinase deficiency (BCKDK deficiency) is a disease resulting from mutations of the BCKDK gene. Patients with BCKDK deficiency have low levels of branched chain amino acids (BCAA) in their organism due to accelerated breakdown of these essential amino acids.
Most of the organic acidemias result from defective autosomal genes for various enzymes important to amino acid metabolism.Neurological and physiological harm is caused by this impaired ability to synthesize a key enzyme required to break down a specific amino acid, or group of amino acids, resulting in acidemia and toxicity to specific organs systems.
Propionic acidemia, also known as propionic aciduria or propionyl-CoA carboxylase deficiency (PCC deficiency), [1] is a rare autosomal recessive metabolic disorder, classified as a branched-chain organic acidemia. [2] [3] The disorder presents in the early neonatal period with poor feeding, vomiting, lethargy, and lack of muscle tone. [4]
Traditionally the inherited metabolic diseases were classified as disorders of carbohydrate metabolism, amino acid metabolism, organic acid metabolism, or lysosomal storage diseases. [4] In recent decades, hundreds of new inherited disorders of metabolism have been discovered and the categories have proliferated.
Beta-ketothiolase deficiency is a rare, autosomal recessive metabolic disorder in which the body cannot properly process the amino acid isoleucine or the products of lipid breakdown. [ 1 ] [ 2 ] Along with SCOT deficiency , it belongs to a group of disorders called ketone utilisation disorders.
Aromatic L-amino acid decarboxylase deficiency has an autosomal recessive pattern of inheritance. Aromatic L-amino acid decarboxylase deficiency is an autosomal recessive condition, meaning an individual needs to have two faulty copies of the DDC gene in order to be affected. Usually, one copy is inherited from each parent. [3]
Medium-chain acyl-CoA dehydrogenase deficiency (MCAD deficiency or MCADD) is a disorder of fatty acid oxidation that impairs the body's ability to break down medium-chain fatty acids into acetyl-CoA. The disorder is characterized by hypoglycemia and sudden death without timely intervention, most often brought on by periods of fasting or vomiting.
Carbamoyl phosphate synthetase I deficiency has an autosomal recessive pattern of inheritance.. CPS I deficiency is inherited in an autosomal recessive manner. [1] This means the defective gene responsible for the disorder is located on an autosome, and two copies of the defective gene (one inherited from each parent) are required in order to be born with the disorder.