Biomaterial Database

Capillary gas-liquid chromatographic-mass spectrometric measurement of very long chain (C22 to C26) fatty acids in microliter samples of plasma. 1985

P Aubourg, and P F Bougnères, and F Rocchiccioli

In order to quantify accurately the plasma content of very long chain fatty acids, we have developed a selected ion monitoring gas-liquid chromatographic-mass spectrometric micromethod which allows all of these acids (22:0, 24:1, 24:0, 26:1, and 26:0) to be determined simultaneously in the same 0.5-ml plasma sample; 17:0 and 27:0 fatty acids are used as assay internal standards. For plasma samples in the range equivalent to the various very long chain fatty acid physiological concentrations, assay precision was +/- 2%. The present method has been successfully applied to the biological recognition of patients with adrenoleukodystrophy, their heterozygote relatives, and of cerebro-hepato-renal syndrome and neonatal adrenoleukodystrophy.

UI	MeSH Term	Description	Entries
D007231	Infant, Newborn	An infant during the first 28 days after birth.	Neonate,Newborns,Infants, Newborn,Neonates,Newborn,Newborn Infant,Newborn Infants
D008401	Gas Chromatography-Mass Spectrometry	A microanalytical technique combining mass spectrometry and gas chromatography for the qualitative as well as quantitative determinations of compounds.	Chromatography, Gas-Liquid-Mass Spectrometry,Chromatography, Gas-Mass Spectrometry,GCMS,Spectrometry, Mass-Gas Chromatography,Spectrum Analysis, Mass-Gas Chromatography,Gas-Liquid Chromatography-Mass Spectrometry,Mass Spectrometry-Gas Chromatography,Chromatography, Gas Liquid Mass Spectrometry,Chromatography, Gas Mass Spectrometry,Chromatography, Mass Spectrometry-Gas,Chromatography-Mass Spectrometry, Gas,Chromatography-Mass Spectrometry, Gas-Liquid,Gas Chromatography Mass Spectrometry,Gas Liquid Chromatography Mass Spectrometry,Mass Spectrometry Gas Chromatography,Spectrometries, Mass-Gas Chromatography,Spectrometry, Gas Chromatography-Mass,Spectrometry, Gas-Liquid Chromatography-Mass,Spectrometry, Mass Gas Chromatography,Spectrometry-Gas Chromatography, Mass,Spectrum Analysis, Mass Gas Chromatography
D002549	Diffuse Cerebral Sclerosis of Schilder	A rare central nervous system demyelinating condition affecting children and young adults. Pathologic findings include a large, sharply defined, asymmetric focus of myelin destruction that may involve an entire lobe or cerebral hemisphere. The clinical course tends to be progressive and includes dementia, cortical blindness, cortical deafness, spastic hemiplegia, and pseudobulbar palsy. Concentric sclerosis of Balo is differentiated from diffuse cerebral sclerosis of Schilder by the pathologic finding of alternating bands of destruction and preservation of myelin in concentric rings. Alpers' Syndrome refers to a heterogeneous group of diseases that feature progressive cerebral deterioration and liver disease. (From Adams et al., Principles of Neurology, 6th ed, p914; Dev Neurosci 1991;13(4-5):267-73)	Alpers Syndrome,Balo Concentric Sclerosis,Cerebral Sclerosis, Diffuse,Encephalitis Periaxialis,Myelinoclastic Diffuse Sclerosis,Poliodystrophia Cerebri,Schilder Disease,Alpers Diffuse Degeneration of Cerebral Gray Matter with Hepatic Cirrhosis,Alpers Disease,Alpers Progressive Infantile Poliodystrophy,Alpers' Disease,Alpers' Syndrome,Alpers-Huttenlocher Syndrome,Balo's Concentric Sclerosis,Encephalitis Periaxialis Concentrica,Encephalitis Periaxialis Diffusa,Neuronal Degeneration Of Childhood With Liver Disease, Progressive,Progressive Neuronal Degeneration of Childhood with Liver Disease,Progressive Sclerosing Poliodystrophy,Schilder's Disease,Sudanophilic Cerebral Sclerosis,Alper Disease,Alper Syndrome,Alper's Disease,Alper's Syndrome,Alpers Huttenlocher Syndrome,Concentric Sclerosis, Balo,Concentric Sclerosis, Balo's,Diffuse Cerebral Scleroses,Diffuse Cerebral Sclerosis,Diffuse Scleroses, Myelinoclastic,Diffuse Sclerosis, Myelinoclastic,Disease, Alpers',Disease, Schilder,Disease, Schilder's,Myelinoclastic Diffuse Scleroses,Progressive Sclerosing Poliodystrophies,Schilders Disease,Scleroses, Balo's Concentric,Scleroses, Myelinoclastic Diffuse,Sclerosis, Diffuse Cerebral,Sclerosis, Myelinoclastic Diffuse,Syndrome, Alpers,Syndrome, Alpers-Huttenlocher
D005227	Fatty Acids	Organic, monobasic acids derived from hydrocarbons by the equivalent of oxidation of a methyl group to an alcohol, aldehyde, and then acid. Fatty acids are saturated and unsaturated (FATTY ACIDS, UNSATURATED). (Grant & Hackh's Chemical Dictionary, 5th ed)	Aliphatic Acid,Esterified Fatty Acid,Fatty Acid,Fatty Acids, Esterified,Fatty Acids, Saturated,Saturated Fatty Acid,Aliphatic Acids,Acid, Aliphatic,Acid, Esterified Fatty,Acid, Saturated Fatty,Esterified Fatty Acids,Fatty Acid, Esterified,Fatty Acid, Saturated,Saturated Fatty Acids
D006579	Heterozygote	An individual having different alleles at one or more loci regarding a specific character.	Carriers, Genetic,Genetic Carriers,Carrier, Genetic,Genetic Carrier,Heterozygotes
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000326	Adrenoleukodystrophy	An X-linked recessive disorder characterized by the accumulation of saturated very long chain fatty acids in the LYSOSOMES of ADRENAL CORTEX and the white matter of CENTRAL NERVOUS SYSTEM. This disease occurs almost exclusively in the males. Clinical features include the childhood onset of ATAXIA; NEUROBEHAVIORAL MANIFESTATIONS; HYPERPIGMENTATION; ADRENAL INSUFFICIENCY; SEIZURES; MUSCLE SPASTICITY; and DEMENTIA. The slowly progressive adult form is called adrenomyeloneuropathy. The defective gene ABCD1 is located at Xq28, and encodes the adrenoleukodystrophy protein (ATP-BINDING CASSETTE TRANSPORTERS).	Adrenomyeloneuropathy,Schilder-Addison Complex,X-Linked Adrenoleukodystrophy,ALD (Adrenoleukodystrophy),Addison Disease and Cerebral Sclerosis,Bronze Schilder Disease,Melanodermic Leukodystrophy,Siemerling-Creutzfeldt Disease,X-ALD,X-ALD (X-Linked Adrenoleukodystrophy),Adrenoleukodystrophy, X-Linked,Leukodystrophies, Melanodermic,Leukodystrophy, Melanodermic,Schilder Addison Complex,Siemerling Creutzfeldt Disease,X ALD,X ALD (X Linked Adrenoleukodystrophy),X Linked Adrenoleukodystrophy