Late-onset combined homocystinuria and methylmalonic aciduria (cblC) and neuropsychiatric disturbance

American Journal of Medical Genetics, Part A

Volumn 143, Issue 20, 2007, Pages 2430-2434

  Tsai, Anne Chun Hui ^a,d   Morel, Chantal F ^b,c   Scharer, Gunter ^a   Yang, Michael ^a   Lerner Ellis, Jordan P ^c   Rosenblatt, David S ^c   Thomas, Janet A ^a  

^a UNIVERSITY OF COLORADO SCHOOL OF MEDICINE   (United States)

^b HOSPITAL FOR SICK CHILDREN   (Canada)

^c MCGILL UNIVERSITY   (Canada)

^d CHILDREN S HOSPITAL   (United States)

Author keywords

cblC; Cobalamin C; Homocystinuria; Methylmalonic aciduria; Myelopathy; Neuropsychiatric disease; Thrombosis; Vitamin B12

Indexed keywords

COBALAMIN; CYANOCOBALAMIN;

ADULT; ANEMIA; ANTIGEN PRESENTATION; ARTHRITIS; ARTICLE; CASE REPORT; CATARACTOGENESIS; CBLC GENE; DIAGNOSTIC ERROR; FAILURE TO THRIVE; FEMALE; GAIT DISORDER; GENE; GENE DUPLICATION; GENE MUTATION; HEARING LOSS; HEMIPLEGIA; HOMOCYSTINURIA; HUMAN; INCONTINENCE; JOINT MOBILITY; MALINGERING; MENTAL DEFICIENCY; MENTAL DISEASE; METHYLMALONIC ACIDURIA; MMACHC GENE; ONSET AGE; PARESTHESIA; PRIORITY JOURNAL; SEIZURE; SPINAL CORD DISEASE; THROMBOSIS; URINARY TRACT INFECTION;

ADULT; CARRIER PROTEINS; FEMALE; HOMOCYSTINURIA; HUMANS; MENTAL DISORDERS; METABOLISM, INBORN ERRORS; METHYLMALONIC ACID; MUTATION; NEUROPSYCHOLOGICAL TESTS; VITAMIN B 12;

EID: 34848912854     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31932     Document Type: Article

References (12)

1. Allen RH, Stabler SP, Lindenbaum J. 1998. Relevance of vitamins, homocysteine and other metabolites in neuropsychiatric disorders. Eur J Ped 157:S122-S126.
2. Augoustides-Savvopoulou P, Mylonas I, Sewell AC, Rosenblatt DS. 1999. Reversible dementia in an adolescent with cblC disease: Clinical heterogeneity within the same family. J Inherit Metab Dis 22:756-758.
3. Bodamer OAF, Rosenblatt DS, Appel SH, Beaudet AL. 2001. Adult-onset combined methylmalonic aciduria and homocystinuria (cblC). Neurology 56:1113.
4. Boxer AL, Kramer JH, Johnston K, Goldman J, Finley R, Miller BL. 2005. Executive dysfunction in hyperhomocystinemia responds to homocysteine-lowering treatment. Neurology 64:1431-1434.
5. Gold R, Bogdahn U, Kappos L, Yoyka KV, Baumgertner ER, Fowler B, Wendel U. 1996. Hereditary defect of cobalamin metabolism (homocystinuria and methylmalonic aciduria) of juvenile onset. J Neurol Neurosurg Psychiatry 60:107-108.
6. Kazimiroff PB, Shaner DM. 1991. Methylmalonic acid and homocystinuria (cobalamin C mutant disease) presenting as acute paraparesis in an adolescent. Ann Neurol 30:468.
7. Lerner-Ellis JP, Tirone JC, Pawelek PD, Dore C, Atkinson JL, Watkins D, Morel CF, Fujiwara TM, Moras E, Hosack AR, Dunbar GV, Antonicka H, Forgetta V, Dobson CM, Leclerc D, Gravel RA, Shoubridge EA, Coulton JW, Lepage P, Rommens JM, Morgan K, Rosenblatt DS. 2006. Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type. Nat Genet 38:93-100.
8. Morel CF, Lerner-Ellis JP, Rosenblatt DS. 2006. Combined methylmalonic aciduria and homocystinuria (cblC): Phenotype-genotype correlations and ethnic-specific observations. Mol Genet Metab 88:315-321.
9. Powers JM, Rosenblatt DS, Schmidt RE, Cross AH, Black JT. Moser AB, Moser HW, Morgan DJ. 2001. Neurological and neuropathologic heterogeneity in two brothers with cobalamin C deficiency. Ann Neurol 49:396-400.
10. Rosenblatt DS, Fenton WA. 2001. Inherited disorders of folate and cobalamin transport and metabolism. In: Scriver CR, Beaudet AF, Sly WS, Valle D, editors. Childs B, Kinzler KW, Vogelstein B, associate editors. The metabolic and molecular bases of inherited disease. 8th edition. NewYork: McGraw-Hill, p 3897-3933.
11. Roze E, Gervais D, Demeret S, Ogier de Baulny H, Zittoun J, Benoist JF, Said G, Pierrot Deseilligny C, Bolgert F. 200.3. Neuropsychiatric disturbances in presumed late-onset cobalamin C disease. Arch Neurol 60:1457-1462.
12. Shinnar S, Singer HS. 1984. Cobalamin C mutation (methylmalonic aciduria and homocystinuria) in adolescence. A treatable cause of dementia and myelopathy. N Engl J Med 311:451-454.