Organic acidemia, also called organic aciduria, is a term used to classify a group of metabolic disorders which disrupt normal amino acid metabolism, particularly branched-chain amino acids, causing a buildup of acids which are usually not present. Inborn errors of metabolism comprise a large class of genetic Diseases involving disorders of Metabolism. Protein metabolism or proteinolysis denotes the various biochemical processes responsible for the synthesis of proteins and amino acids The phrase branched-chain amino acids or BCAA is sometimes used to refer to the Amino acids having Aliphatic side-chains that are non-linear ^[1]

The four main types of organic acidemia are: methylmalonic acidemia, propionic acidemia, isovaleric acidemia, and maple syrup urine disease. Methylmalonic acidemia (MMA also called methylmalonic aciduria, is an Autosomal Recessive Metabolic disorder. Propionic acidemia, also known as propionic aciduria, propionyl-CoA carboxylase deficiency and ketotic glycinemia, is an Autosomal Isovaleric acidemia, also called isovaleric aciduria or isovaleric acid CoA dehydrogenase deficiency, is a rare Autosomal Recessive Maple syrup urine disease (MSUD also called branched-chain ketoaciduria, is an Autosomal Recessive Metabolic disorder affecting ^[1]

Contents 1 Terminology 2 Diagnosis and Symptoms 3 Cause 4 Treatment 5 References

Terminology

Organic acids refer to the amino acids and certain odd-chained fatty acids which are affected by these disorders. An organic acid is an Organic compound with Acidic properties In Chemistry, an amino acid is a Molecule containing both Amine and Carboxyl Functional groups In Biochemistry, this In Chemistry, especially Biochemistry, a fatty acid is a Carboxylic acid often with a long unbranched Aliphatic tail ( chain) which

The branched-chain amino acids include isoleucine, leucine and valine. Isoleucine (abbreviated as Ile or I) is an α- Amino acid with the Chemical formula HO2CCH(NH2CH(CH3CH2CH3 Leucine (abbreviated as Leu or L) is an α- Amino acid with the Chemical formula HO2CCH(NH2CH2CH(CH32 Valine (abbreviated as Val or V) is an α- Amino acid with the Chemical formula HO2CCH(NH2CH(CH32 ^[1]

Diagnosis and Symptoms

Organic acidemias are usually always diagnosed in infancy, characterized by urinary excretion of abnormal amounts or types of organic acids. An organic acid is an Organic compound with Acidic properties The diagnosis is usually made by detecting an abnormal pattern of organic acids in a urine sample by gas chromatography - mass spectrometry. Urine organic acids is a medical Diagnostic test used to exclude the possibility that a person has an Inborn error of metabolism, usually one of the Organic acidoses In some conditions, the urine is always abnormal, in others the characteristic substances are only present intermittently. Many of the organic acidemias are detectable by newborn screening with tandem mass spectrometry. Newborn screening is the process of testing newborn babies for treatable genetic, endocrinologic, metabolic and hematologic diseases ^[2]

These disorders vary in their prognosis, from manageable to fatal, and usually affect more than one organ system, especially the central nervous system. Prognosis (older Greek πρόγνωσις modern Greek πρόγνωση - literally fore-knowing foreseeing) is a medical term denoting the In Biology, an organ ( Latin: organum, "instrument tool" from Greek όργανον - organon "organ instrument In Vertebrates the central nervous system ( CNS) is the part of the Nervous system which is enclosed in the Meninges.

Neurological damage and developmental delay are common factors in diagnosis, with associated symptoms ranging from poor feeding to slow growth, lethargy, vomiting, dehydration, malnutrition, hypoglycemia, hypotonia, metabolic acidosis, ketoacidosis, hyperammonemia, and if left untreated, death. Developmental disability is a term used to describe life-long disabilities attributable to mental and/or physical or combination of mental and physical impairments Dysphagia should not be confused with the similarly pronounced Dysphasia, a language disorder Vomiting (also called throwing up, emesis) is the forceful expulsion of the contents of one's Stomach through the Mouth and sometimes the Dehydration ( hypohydration) is the removal of Water ( hydro in ancient Greek) from an object Malnutrition is a general term for a medical condition caused by an improper or insufficient diet. Hypoglycemia or hypoglycaemia is the medical term for a pathologic state produced by a lower than normal level of Glucose ( sugar) in the blood Hypotonia is a condition of abnormally low Muscle tone (the amount of tension or resistance to movement in a muscle often involving reduced muscle strength In Medicine, metabolic acidosis is a process which if unchecked leads to acidemia (i Ketoacidosis is a type of metabolic Acidosis which is caused by high concentrations of Ketone bodies, formed by the Deamination of Amino acids Hyperammonemia (or 'hyperammonaemia' is a metabolic disturbance characterised by an excess of Ammonia in the blood Death is the termination of the biological functions that define living Organisms It refers both to a specific

Cause

Most of the organic acidemias result from defective autosomal genes for various enzymes important to amino acid metabolism. An autosome is a non-sex Chromosome. It is an ordinarily paired type of chromosome that is the same in both Sexes of a species. History See also History of genetics The existence of genes was first suggested by Gregor Mendel (1822-1884 who in the 1860s studied inheritance Enzymes are Biomolecules that catalyze ( ie increase the rates of Chemical reactions Almost all enzymes are Proteins Metabolism is the set of Chemical reactions that occur in living Organisms in order to maintain Life. 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. Most are inherited as autosomal recessive diseases.

Treatment

Treatment or management of organic acidemias vary. There are no effective treatments for all of the conditions, though treatment for some may include a limited protein/high carbohydrate diet, intravenous fluids, amino acid substitution, vitamin supplementation, carnitine, induced anabolism,^[3] and in some cases, tube-feeding. Proteins are large Organic compounds made of Amino acids arranged in a linear chain and joined together by Peptide bonds between the Carboxyl Carbohydrates (from ' Hydrates of Carbon ' or saccharides ( Greek σάκχαρον meaning " Sugar " are the most Intravenous therapy or IV therapy is the giving of Liquid substances directly into a Vein. Anabolism is the set of Metabolic pathways that construct molecules from smaller units

References

---

© 2009 citizendia.org; parts available under the terms of GNU Free Documentation License, from http://en.wikipedia.org
Dapyx Software network: MP3 Explorer | Ebook Manager | Zenithic