title: Propionic acidemia--biochemical studies.
abstract: The first documented case of propionic acidemia in Israel is described. Diagnosis was based on three independent methods: analysis of urinary organic acids by gas chromatography/mass spectrometry, assay of propionyl CoA carboxylase activity and oxidation of 1-14C-propionate by cultured skin fibroblasts. The use of more than one method for confirmation of the diagnosis is considered to be of importance in providing an additional margin of safety in cases where genetic counseling and prenatal diagnosis in future pregnancies are indicated.
authors.affiliation: Department of Clinical Biochemistry, Hadassah University Hospital, Jerusalem.
authors.forename: V
authors.initials: V
authors.lastname: Barash
authors.forename: O
authors.initials: O
authors.lastname: Elpeleg
authors.forename: R
authors.initials: R
authors.lastname: Amit
authors.forename: S
authors.initials: S
authors.lastname: Gottfried
authors.forename: S
authors.initials: S
authors.lastname: Yatziv
authors.forename: A
authors.initials: A
authors.lastname: Gutman
mesh_terms: D000641:Ammonia / Q000097:blood; D002245:Carbon Dioxide / Q000096:biosynthesis; D002262:Carboxy-Lyases / Q000172:deficiency; D005260:Female; D005347:Fibroblasts / Q000378:metabolism; D006801:Humans; D007231:Infant, Newborn; D043586:Methylmalonyl-CoA Decarboxylase; D011422:Propionates / Q000097:blood* / Q000378:metabolism; D012867:Skin / Q000378:metabolism / Q000473:pathology
chemical_list: D011422:Propionates; D002245:Carbon Dioxide; D000641:Ammonia; D002262:Carboxy-Lyases; D043586:Methylmalonyl-CoA Decarboxylase; C029658:propionic acid