Biomaterial Database

Free amino acids in extracts of cultured skin fibroblasts from patients with various amino acid metabolic disorders. 1975

V E Shih, and R Mandell, and H L Levy, and J W Littlefield

In the search for a simple screening test for prenatal diagnosis of amino acid metabolic disorders, we compared the free amino acid contents in the extract of cultured skin fibroblasts from normal individuals with that from patients with 10 metabolic disorders: maple-syrup urine disease; homocystinuria due to cystathionine synthase deficiency; homocystinuria due to N5, 10-methylene-tetrahydrofolate reductase deficiency; citrullinemia; argininosuccinic acidemia: propionic acidemia; hyperprolinemia Type II; non-ketotic hyperglycinemia; hydroxyprolinemia; and hyperonithinemia. An accumulation of abnormal metabolites was not found in any of the disorders except argininosuccinic aciduria. Argininosuccinic acid anhydrides were detected in cell extracts from all four patients only after the extract was boiled at acid pH for 2 1/2 h. Thus, it is concluded that the measurement of free amino acids in extracts from cultured fibroblasts is not a useful screening technique in the diagnosis of inborn errors of amino acid metabolism.

UI	MeSH Term	Description	Entries
D011296	Prenatal Diagnosis	Determination of the nature of a pathological condition or disease in the postimplantation EMBRYO; FETUS; or pregnant female before birth.	Diagnosis, Prenatal,Fetal Diagnosis,Fetal Imaging,Fetal Screening,Intrauterine Diagnosis,Antenatal Diagnosis,Antenatal Screening,Diagnosis, Antenatal,Diagnosis, Intrauterine,Prenatal Screening,Antenatal Diagnoses,Antenatal Screenings,Diagnosis, Fetal,Fetal Diagnoses,Fetal Imagings,Fetal Screenings,Imaging, Fetal,Intrauterine Diagnoses,Prenatal Diagnoses,Prenatal Screenings,Screening, Antenatal,Screening, Fetal,Screening, Prenatal
D002460	Cell Line	Established cell cultures that have the potential to propagate indefinitely.	Cell Lines,Line, Cell,Lines, Cell
D005347	Fibroblasts	Connective tissue cells which secrete an extracellular matrix rich in collagen and other macromolecules.	Fibroblast
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
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
D012867	Skin	The outer covering of the body that protects it from the environment. It is composed of the DERMIS and the EPIDERMIS.