title: Combined methylmalonic acidemia and homocystinuria, cblC type. II. Complications, pathophysiology, and outcomes.
abstract: Combined methylmalonic acidemia and homocystinuria, cblC type, is stated to be the most common inborn error of intracellular cobalamin metabolism. The disorder can display a wide spectrum of clinical manifestations, spanning the prenatal period through late adulthood. While increased homocysteine concentrations and impaired methyl group metabolism may contribute to disease-related complications, the characteristic macular and retinal degeneration seen in many affected patients appears to be unique to cblC disease. The early detection of cblC disease by newborn screening mandates a careful assessment of therapeutic approaches and provides a new opportunity to improve the outcome of affected patients. The following article reviews the current knowledge on the complications, pathophysiology, and outcome of cblC disease in an effort to better guide clinical practice and future therapeutic trials.
authors: Organic Acid Research Section, Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health, Building 49, Room 4A18, Bethesda, MD 20892, USA.
authors: Nuria
authors: N
authors: Carrillo-Carrasco
authors: Charles P
authors: CP
authors: Venditti
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000592:Amino Acid Metabolism, Inborn Errors / Q000235:genetics* / Q000503:physiopathology* / Q000628:therapy*; D002352:Carrier Proteins / Q000235:genetics*; D002490:Central Nervous System; D002648:Child; D002675:Child, Preschool; D005128:Eye Diseases / Q000150:complications / Q000175:diagnosis; D005260:Female; D006710:Homocysteine / Q000378:metabolism; D006712:Homocystinuria / Q000235:genetics* / Q000503:physiopathology* / Q000628:therapy*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008875:Middle Aged; D010088:Oxidoreductases; D011247:Pregnancy; D014806:Vitamin B 12 Deficiency / Q000151:congenital
chemical_list: D002352:Carrier Proteins; D006710:Homocysteine; C508359:MMACHC protein, human; D010088:Oxidoreductases