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Propionic acidemia is an inherited disorder of inborn error of intermediary metabolism that may present in the early neonatal period with progressive encephalopathy. Death can occur at anytime due to secondary hyperammonemia, infection due to immune system suppression, cardiomyopathy, or basal ganglial stroke. The following codes are used with International Statistical Classification of Diseases and Related Health Problems. ...
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The following is a list of codes for International Statistical Classification of Diseases and Related Health Problems. ...
The Mendelian Inheritance in Man project is a database that catalogues all the known diseases with a genetic component, and - when possible - links them to the relevant genes in the human genome. ...
eMedicine is an online clinical medical knowledge base that was founded in 1996. ...
Inborn errors of metabolism are a large group of rare but often serious metabolic disorders that generally arise from deficiency or malfunction of enzymes that regulate conversion of various substances into others. ...
Santorio Santorio (1561-1636) in his steelyard balance, from Ars de statica medecina, first published 1614 Metabolism (from μεταβολισμος (metabolismos)) is the biochemical modification of chemical compounds in living organisms anggjgjhnd cell (b). ...
A human infant The word Infant derives from the Latin in-fans, meaning unable to speak. ...
Encephalopathy is a container term for various conditions affecting the brain. ...
Hyperammonemia is a metabolic disturbance characterised by an excess of ammonia in the blood. ...
Incidence Propionic acidemia is inherited in a autosomal recessive pattern and occurs in about 1 in 100,000 live births in the United States. The condition appears to be more common in Saudi Arabia with a frequency of 1 in 2,000 to 5,000 people. In genetics, the term recessive gene refers to an allele that causes a phenotype (visible or detectable characteristic) that is only seen in a homozygous genotype (an organism that has two copies of the same allele). ...
Symptoms Individuals with propionic acidemia are unable to process certain amino acids, which make up protein, and lipids properly. The condition, which usually appears in early infancy, is characterized by poor feeding, vomiting, weak muscle tone (hypotonia), seizures, and lethargy. The effects of propionic acidemia can be life-threatening. Figure 1: Structure of a Lipid. ...
Vomiting (or emesis) is the forceful expulsion of the contents of ones stomach through the mouth. ...
A top-down view of skeletal muscle Muscle is contractile tissue of the body and is derived from the mesodermal layer of embryonic germ cells. ...
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. ...
Fatigue is a feeling of excessive tiredness or lethargy, with a desire to rest, perhaps to sleep. ...
Cause Mutations in the PCCA and PCCB genes cause propionic acidemia. The PCCA and PCCB genes make protein subunits that come together to form an enzyme called propionyl-CoA carboxylase (EC 6.4.1.3). This enzyme is responsible for one step in the breakdown of several amino acids, certain lipids, and cholesterol. Mutations in the PCCA or PCCB gene disrupt the function of the enzyme, preventing these molecules from being broken down. As a result, a substance called propionyl-CoA, propionic acid and other potentially toxic compounds can accumulate, causing the signs and symptoms of propionic acidemia. This stylistic schematic diagram shows a gene in relation to the double helix structure of DNA and to a chromosome (right). ...
Ribbon diagram of the enzyme TIM. TIM is catalytically perfect, meaning its conversion rate is limited, or nearly limited to its substrate diffusion rate. ...
The Enzyme Commission number (EC number) is a numerical classification scheme for enzymes, based on the chemical reactions they catalyze. ...
In chemistry, an amino acid is any molecule that contains both amino and carboxylic acid functional groups. ...
Cholesterol is a sterol (a combination steroid and alcohol) and a lipid found in the cell membranes of all body tissues, and transported in the blood plasma of all animals. ...
Propionic acid (systematically named propanoic acid) is a naturally occurring carboxylic acid with chemical formula CH3CH2COOH. In the pure state, it is a colorless, corrosive liquid with a pungent odor. ...
Toxic redirects here, but this is also the name of a song by Britney Spears; see Toxic (song) Look up toxic and toxicity in Wiktionary, the free dictionary. ...
See also Methylmalonic acidemia (MMA) is an inborn error of intermediary metabolism that may present in the early neonatal period with progressive encephalopathy and death due to a secondary hyperammonemia. ...
Isovaleric acidemia is a rare genetic disorder in which the body is unable to process certain proteins properly. ...
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