Biomaterial Database

3-Hydroxy-3-methylglutaric aciduria, combined with 3-methylglutaconic aciduria. 1976

S J Wysocki, and S P Wilkinson, and R Hähnel, and C Y Wong, and P K Panegyres

1. A baby with severe metabolic acidosis was found to excrete abnormal amounts of 3-methylcrotonic acid, 3-methylglutaconic acid and 3-hydroxy-3-methylglutaric acid in urine. 2. Several other abnormal constitutents appear to be products of side-reactions and include 3-hydroxy-3-methylbutyric acid and 3-methylglutaric acid. 3. The profile of acids in urine indicates a blockage in the sixth step of leucine catabolism, the cleavage of 3-hydroxy-3-methylglutaryl-CoA to acetoacetic acid and acetyl-CoA.

UI	MeSH Term	Description	Entries
D007223	Infant	A child between 1 and 23 months of age.	Infants
D007930	Leucine	An essential branched-chain amino acid important for hemoglobin formation.	L-Leucine,Leucine, L-Isomer,L-Isomer Leucine,Leucine, L Isomer
D002849	Chromatography, Gas	Fractionation of a vaporized sample as a consequence of partition between a mobile gaseous phase and a stationary phase held in a column. Two types are gas-solid chromatography, where the fixed phase is a solid, and gas-liquid, in which the stationary phase is a nonvolatile liquid supported on an inert solid matrix.	Chromatography, Gas-Liquid,Gas Chromatography,Chromatographies, Gas,Chromatographies, Gas-Liquid,Chromatography, Gas Liquid,Gas Chromatographies,Gas-Liquid Chromatographies,Gas-Liquid Chromatography
D005977	Glutarates	Derivatives of glutaric acid (the structural formula (COO-)2C3H6), including its salts and esters.	Glutarate
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D006885	Hydroxybutyrates	Salts and esters of hydroxybutyric acid.	Hydroxybutyric Acid Derivatives,Hydroxybutyric Acids,Acid Derivatives, Hydroxybutyric
D000138	Acidosis	A pathologic condition of acid accumulation or depletion of base in the body. The two main types are RESPIRATORY ACIDOSIS and metabolic acidosis, due to metabolic acid build up.	Metabolic Acidosis,Acidoses,Acidoses, Metabolic,Acidosis, Metabolic,Metabolic Acidoses
D000592	Amino Acid Metabolism, Inborn Errors	Disorders affecting amino acid metabolism. The majority of these disorders are inherited and present in the neonatal period with metabolic disturbances (e.g., ACIDOSIS) and neurologic manifestations. They are present at birth, although they may not become symptomatic until later in life.	Amino Acidopathies, Congenital,Amino Acid Metabolism Disorders, Inborn,Amino Acid Metabolism, Inborn Error,Amino Acid Metabolism, Inherited Disorders,Amino Acidopathies, Inborn,Congenital Amino Acidopathies,Inborn Errors, Amino Acid Metabolism,Inherited Errors of Amino Acid Metabolism,Amino Acidopathy, Congenital,Amino Acidopathy, Inborn,Congenital Amino Acidopathy,Inborn Amino Acidopathies,Inborn Amino Acidopathy
D013058	Mass Spectrometry	An analytical method used in determining the identity of a chemical based on its mass using mass analyzers/mass spectrometers.	Mass Spectroscopy,Spectrometry, Mass,Spectroscopy, Mass,Spectrum Analysis, Mass,Analysis, Mass Spectrum,Mass Spectrum Analysis,Analyses, Mass Spectrum,Mass Spectrum Analyses,Spectrum Analyses, Mass