Methylmalonic Aciduria—A Newly Discovered Inborn Error
Authors: LEWIS A. BARNESS
Journal: Annals of Internal Medicine (1968)

Editorial Notes1 September 1968Methylmalonic Aciduria—A Newly Discovered Inborn ErrorLEWIS A. BARNESS, M.D., GRANT MORROW III, M.D.LEWIS A. BARNESS, M.D.Search for more papers by this author, GRANT MORROW III, M.D.Search for more papers by this authorAuthor, Article, and Disclosure Informationhttps://doi.org/10.7326/0003-4819-69-3-633_2 SectionsAboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail ExcerptThe development of relatively simple methods during the last decade for the quantitative determination of organic acids in biological fluids threatens the practitioner with an inundation of organic acidurias not unlike that of the flood of aminoacidurias of the early 1950's. That some of the organic acidurias will occur in patients with aminoacidurias or other errors of metabolism will not be surprising, since the organic acids being measured are intermediates in the metabolic pathways of proteins, carbohydrates, and fats.Methylmalonic acid, originally identified in the urine of rats, is increased in the urine of patients with vitamin B12deficiency. It...References1. OBERHOLZERLEVINBURGESSYOUNG VGBEAWF: Methylmalonic aciduria. An inborn error of metabolism loading to chronic metabolic acidosis. Arch. Dis. Child. 42: 492, 1967. CrossrefMedlineGoogle Scholar2. STOKKEELDJARNNORUMSTEEN-JOHNSENHALVORSEN OLKRJS: Methylmalonic acidemia. A new inborn error of metabolism which may cause fatal acidosis in the neonatal period. Scand. J. Lab. Clin. Med. 20: 313, 1967. CrossrefGoogle Scholar3. MORROWBARNESSAUERBACHDIGEORGE GLAVHAM: Intermittent glycinemia and methylmalonic aciduria—a new syndrome? Presented at the Society for Pediatric Research Atlantic City, May 3 to 4, 1968. Google Scholar4. ROSENBERGLILLJEQUISTHSIA LEAYE: Methylmalonic aciduria—an inborn error leading to metabolic acidosis, longterm ketonuria and intermittent hyperglycinemia. New Eng. J. Med. 278: 1319, 1968. CrossrefMedlineGoogle Scholar5. CHILDSNYHANBORDENBARDCOOKE BWLMLRE: Idiopathic hyperglycinemia and hyperglycinuria: a new disorder of amino acid metabolism. Pediatrics 27: 522, 1961. MedlineGoogle Scholar6. FRIMPTER GW: Pyridoxine (B6) dependency syndromes. Ann. Intern. Med. 68: 1131, 1968. LinkGoogle Scholar This content is PDF only. To continue reading please click on the PDF icon. Author, Article, and Disclosure InformationAffiliations: Department of Pediatrics University of Pennsylvania School of Medicine Philadelphia, Pa. PreviousarticleNextarticle Advertisement FiguresReferencesRelatedDetails Metrics Cited byRare diseases and the assessment of intervention: What sorts of clinical trials can we use?Inherited disorders of cobalamin metabolismMethylmalonic Aciduria and Hypoglycemia7Inborn errors of organic acid metabolismMETHYMALONIC ACIDURIADEFECTIVE PROPIONATE CARBOXYLATION IN KETOTIC HYPERGLYCINÆMIA 1 September 1968Volume 69, Issue 3Page: 633-635KeywordsAcidsCarbohydrate metabolismCarbohydratesFatsMetabolic pathwaysProtein metabolismUrineVitamin B12 deficiency Issue Published: 1 September 1968 PDF downloadLoading ...