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46 relations: Acidosis, American Journal of Medical Genetics, Amino acid, Amish, Ammonia, Autosome, Baltimore, Barton Childs, Blood, Branched-chain amino acid, Carnitine, Dehydration, Dietitian, Dominance (genetics), Enzyme, Fatty acid, Gene, Geneticist, Glycine, Hyperammonemia, Hypotonia, Infant, Isoleucine, Isovaleric acidemia, Johns Hopkins Hospital, Ketone, Lethargy, Maple syrup urine disease, Maryland, Mennonites, Metabolic disorder, Methionine, Methylmalonic acidemia, Methylmalonyl-CoA, Muscle, National Center for Advancing Translational Sciences, Organic acidemia, Propionic acid, Propionyl-CoA, Propionyl-CoA carboxylase, Saudi Arabia, Threonine, Toxicity, United States, Valine, Vomiting.
Acidosis
Acidosis is a process causing increased acidity in the blood and other body tissues (i.e., an increased hydrogen ion concentration).
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American Journal of Medical Genetics
American Journal of Medical Genetics is a peer-reviewed medical journal dealing with human genetics published in three separate sections (parts) by Wiley-Liss.
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Amino acid
Amino acids are organic compounds containing amine (-NH2) and carboxyl (-COOH) functional groups, along with a side chain (R group) specific to each amino acid.
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Amish
The Amish (Pennsylvania German: Amisch, Amische) are a group of traditionalist Christian church fellowships with Swiss German Anabaptist origins.
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Ammonia
Ammonia is a compound of nitrogen and hydrogen with the formula NH3.
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Autosome
An autosome is a chromosome that is not an allosome (a sex chromosome).
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Baltimore
Baltimore is the largest city in the U.S. state of Maryland, and the 30th-most populous city in the United States.
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Barton Childs
Barton Childs (February 29, 1916 – February 18, 2010) was an American pediatrician and geneticist.
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Blood
Blood is a body fluid in humans and other animals that delivers necessary substances such as nutrients and oxygen to the cells and transports metabolic waste products away from those same cells.
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Branched-chain amino acid
A branched-chain amino acid (BCAA) is an amino acid having aliphatic side-chains with a branch (a central carbon atom bound to three or more carbon atoms).
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Carnitine
Carnitine (β-hydroxy-γ-N-trimethylaminobutyric acid, 3-hydroxy-4-N,N,N- trimethylaminobutyrate) is a quaternary ammonium compound involved in metabolism in most mammals, plants and some bacteria. Carnitine may exist in two isomers, labeled D-carnitine and L-carnitine, as they are optically active. At room temperature, pure carnitine is a white powder, and a water-soluble zwitterion with low toxicity. Carnitine only exists in animals as the L-enantiomer, and D-carnitine is toxic because it inhibits the activity of L-carnitine. Carnitine, derived from an amino acid, is found in nearly all organisms and animal tissue. Carnitine is the generic expression for a number of compounds that include L-carnitine, acetyl-L-carnitine, and propionyl-L-carnitine. It is most accumulated in cardiac and skeletal muscles as it accounts for 0.1% of its dry matter. It was first derived from meat extracts in 1905, therefore the name carnitine is derived from Latin "carnus" or flesh. The body synthesizes enough carnitine from lysine side chains to keep up with the needs of energy production in the body as carnitine acts as a transporter of long-chain fatty acids into the mitochondria to be oxidized and produce energy. Some individuals with genetic or medical disorders (like preterm infants) cannot make enough, so this makes carnitine a conditionally essential nutrient for them.
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Dehydration
In physiology, dehydration is a deficit of total body water, with an accompanying disruption of metabolic processes.
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Dietitian
A dietitian (or dietician) is an expert in dietetics; that is, human nutrition and the regulation of diet.
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Dominance (genetics)
Dominance in genetics is a relationship between alleles of one gene, in which the effect on phenotype of one allele masks the contribution of a second allele at the same locus.
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Enzyme
Enzymes are macromolecular biological catalysts.
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Fatty acid
In chemistry, particularly in biochemistry, a fatty acid is a carboxylic acid with a long aliphatic chain, which is either saturated or unsaturated.
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Gene
In biology, a gene is a sequence of DNA or RNA that codes for a molecule that has a function.
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Geneticist
A geneticist is a biologist who studies genetics, the science of genes, heredity, and variation of organisms.
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Glycine
Glycine (symbol Gly or G) is the amino acid that has a single hydrogen atom as its side chain.
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Hyperammonemia
Hyperammonemia (or hyperammonaemia) is a metabolic disturbance characterised by an excess of ammonia in the blood.
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Hypotonia
Hypotonia, commonly known as floppy baby syndrome, is a state of low muscle tone (the amount of tension or resistance to stretch in a muscle), often involving reduced muscle strength.
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Infant
An infant (from the Latin word infans, meaning "unable to speak" or "speechless") is the more formal or specialised synonym for "baby", the very young offspring of a human.
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Isoleucine
Isoleucine (symbol Ile or I) is an α-amino acid that is used in the biosynthesis of proteins.
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Isovaleric acidemia
Isovaleric acidemia is a rare autosomal recessive metabolic disorder which disrupts or prevents normal metabolism of the branched-chain amino acid leucine.
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Johns Hopkins Hospital
The Johns Hopkins Hospital (JHH) is the teaching hospital and biomedical research facility of the Johns Hopkins School of Medicine, located in Baltimore, Maryland, U.S. It was founded in 1889 using money from a bequest by philanthropist Johns Hopkins.
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Ketone
In chemistry, a ketone (alkanone) is an organic compound with the structure RC(.
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Lethargy
Lethargy is a state of tiredness, weariness, fatigue, or lack of energy.
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Maple syrup urine disease
Maple syrup urine disease (MSUD), also called branched-chain ketoaciduria, is an autosomal recessive metabolic disorder affecting branched-chain amino acids.
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Maryland
Maryland is a state in the Mid-Atlantic region of the United States, bordering Virginia, West Virginia, and Washington, D.C. to its south and west; Pennsylvania to its north; and Delaware to its east.
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Mennonites
The Mennonites are members of certain Christian groups belonging to the church communities of Anabaptist denominations named after Menno Simons (1496–1561) of Friesland (which today is a province of the Netherlands).
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Metabolic disorder
A metabolic disorder can happen when abnormal chemical reactions in the body alter the normal metabolic process.
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Methionine
Methionine (symbol Met or M) is an essential amino acid in humans.
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Methylmalonic acidemia
Methylmalonic acidemia (MMA), also called methylmalonic aciduria, is an autosomal recessive metabolic disorder.
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Methylmalonyl-CoA
Methylmalonyl-CoA is the thioester consisting of coenzyme A linked to methylmalonic acid.
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Muscle
Muscle is a soft tissue found in most animals.
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National Center for Advancing Translational Sciences
The National Center for Advancing Translational Sciences (NCATS) was established in 2012 and is located in Bethesda, Maryland.
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Organic acidemia
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.
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Propionic acid
Propionic acid (from the Greek words protos, meaning "first", and pion, meaning "fat"; also known as propanoic acid) is a naturally occurring carboxylic acid with chemical formula C2H5COOH.
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Propionyl-CoA
Propionyl-CoA is a coenzyme A derivative of propionic acid.
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Propionyl-CoA carboxylase
Propionyl-CoA carboxylase catalyses the carboxylation reaction of propionyl CoA in the mitochondrial matrix.
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Saudi Arabia
Saudi Arabia, officially the Kingdom of Saudi Arabia (KSA), is a sovereign Arab state in Western Asia constituting the bulk of the Arabian Peninsula.
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Threonine
Threonine (symbol Thr or T) is an amino acid that is used in the biosynthesis of proteins.
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Toxicity
Toxicity is the degree to which a chemical substance or a particular mixture of substances can damage an organism.
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United States
The United States of America (USA), commonly known as the United States (U.S.) or America, is a federal republic composed of 50 states, a federal district, five major self-governing territories, and various possessions.
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Valine
Valine (symbol Val or V) is an α-amino acid that is used in the biosynthesis of proteins.
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Vomiting
Vomiting, also known as emesis, puking, barfing, throwing up, among other terms, is the involuntary, forceful expulsion of the contents of one's stomach through the mouth and sometimes the nose.
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Redirects here:
Acidemia, propionic, Ketotic glycinemia, Propionic aciduria, Propionyl-CoA carboxylase deficiency.
References
[1] https://en.wikipedia.org/wiki/Propionic_acidemia
