Neurologic and neurodevelopmental phenotypes in young children with early-treated combined methylmalonic acidemia and homocystinuria, cobalamin C type

Molecular Genetics and Metabolism

Volumn 110, Issue 3, 2013, Pages 241-247

  Weisfeld Adams, James D ^a   Bender, H Allison ^a   Miley Åkerstedt, Anna ^a   Frempong, Tamiesha ^a   Schrager, Nina L ^a   Patel, Keyur ^a   Naidich, Thomas P ^a   Stein, Victoria ^a   Spat, Jessica ^a   Towns, Stephanie ^a   Wasserstein, Melissa P ^a   Peter, Inga ^a   Frank, Yitzchak ^a   Diaz, George A ^a  

^a MOUNT SINAI SCHOOL OF MEDICINE   (United States)

Author keywords

Cobalamin C; Homocystinuria; Methylmalonic acidemia; MMACHC; Neurodevelopment; Newborn screening

Indexed keywords

BETAINE; COBALAMIN; HYDROXOCOBALAMIN;

ARTICLE; CHILD; CHILDHOOD DISEASE; CLINICAL ARTICLE; COBALAMIN C DISEASE; COMMUNICATION SKILL; CONTROLLED STUDY; DEVELOPMENTAL DISORDER; DISABILITY; DRUG DOSE ESCALATION; FEMALE; FOLLOW UP; GENOTYPE; HEALTH CARE QUALITY; HEALTH CENTER; HOMOCYSTINURIA; HUMAN; INFANT; INTERVIEW; MALE; MEDICAL HISTORY; METHYLMALONIC ACIDEMIA; MICROCEPHALY; MOTOR PERFORMANCE; MUSCLE HYPOTONIA; NERVE CELL DIFFERENTIATION; NERVOUS SYSTEM DEVELOPMENT; NEUROLOGIST; NEWBORN SCREENING; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; NYSTAGMUS; ONSET AGE; OPHTHALMOLOGIST; PHENOTYPE; PONS; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SEIZURE; SOCIALIZATION; UNITED STATES; WHITE MATTER;

COBALAMIN C; HOMOCYSTINURIA; METHYLMALONIC ACIDEMIA; MMACHC; NEURODEVELOPMENT; NEWBORN SCREENING;

AMINO ACID METABOLISM, INBORN ERRORS; AMINO ACID SUBSTITUTION; CARRIER PROTEINS; CHILD, PRESCHOOL; FEMALE; GENOTYPE; HOMOCYSTINURIA; HUMANS; INFANT; INFANT, NEWBORN; MAGNETIC RESONANCE IMAGING; MALE; MUTATION; NEONATAL SCREENING; PHENOTYPE;

EID: 84885429889     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2013.07.018     Document Type: Article

References (39)

1. Lerner-Ellis J.P., Tirone J.C., Pawelek P.D., Doré C., Atkinson J.L., Watkins D., Morel C.F., Fujiwara T.M., Moras E., Hosack A.R., Dunbar G.V., Antonicka H., Forgetta V., Dobson C.M., Leclerc D., Gravel R.A., Shoubridge E.A., Coulton J.W., LePage P., Rommens J.M., Morgan K., Rosenblatt D.S. Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type. Nat. Genet. 2006, 38:93-100.
2. Rossi A., Cerone R., Biancheri R., Gatti R., Schiaffino M.C., Fonda C., Zammarchi E., Tortori-Donati P. Early-onset combined methylmalonic aciduria and homocystinuria: neuroradiologic findings. Am. J. Neuroradiol. 2001, 22:554-563.
3. Longo D., Fariello G., Dionisi-Vici C., Cannata V., Boenzi S., Genovese E., Deodato F. MRI and 1H-MRS findings in early-onset cobalamin C/D defect. Neuropediatrics 2005, 36:366-367.
4. Rosenblatt D.S., Aspler A.L., Shevell M.I., Pletcher B.A., Fenton W.A., Seashore M.R. Clinical heterogeneity and prognosis in combined methylmalonic aciduria and homocystinuria (cblC). J. Inherit. Metab. Dis. 1997, 20:528-538.
5. Carrillo-Carrasco N., Chandler R.J., Venditti C.P. Combined methylmalonic acidemia and homocystinuria, cblC type. I. Clinical presentations, diagnosis and management. J. Inherit. Metab. Dis. 2012, 35:91-102.
6. Gerth C., Morel C.F., Feigenbaum A., Levin A.V. Ocular phenotype in patients with methylmalonic aciduria and homocystinuria, cobalamin C type. J. AAPOS 2008, 12:591-596.
7. Bodamer O.A., Rosenblatt D.S., Appel S.H., Beaudet A.L. Adult-onset combined methylmalonic aciduria and homocystinuria (cblC). Neurology 2001, 56:1113.
8. Tsai A.C., Morel C.F., Scharer G., Yang M., Lerner-Ellis J.P., Rosenblatt D.S., Thomas J.A. Late-onset combined homocystinuria and methylmalonic aciduria (cblC) and neuropsychiatric disturbance. Am. J. Med. Genet. A 2007, 143A:2430-2434.
9. Weisfeld-Adams J.D., Morrissey M.A., Kirmse B.M., Salveson B.R., Wasserstein M.P., McGuire P.J., Sunny S., Cohen-Pfeffer J.L., Yu C., Caggana M., Diaz G.A. Newborn screening and early biochemical follow-up in combined methylmalonic aciduria and homocystinuria, cblC type, and utility of methionine as a secondary screening analyte. Mol. Genet. Metab. 2010, 99:116-123.
10. Carmel R., Bedros A.A., Mace J.W., Goodman S.I. Congenital methylmalonic aciduria-homocystinuria with megaloblastic anemia: observations on response to hydroxocobalamin and on the effect of homocysteine and methionine on the deoxyuridine suppression test. Blood 1980, 55:570-579.
11. Bartholomew D.W., Batshaw M.L., Allen R.H., Roe C.R., Rosenblatt D., Valle D.L., Francomano C.A. Therapeutic approaches to cobalamin-C methylmalonic acidemia and homocystinuria. J. Pediatr. 1988, 112:32-39.
12. Enns G.M., Barkovich A.J., Rosenblatt D.S., Fredrick D.R., Weisiger K., Ohnstad C., Packman S. Progressive neurological deterioration and MRI changes in cblC methylmalonic acidaemia treated with hydroxocobalamin. J. Inherit. Metab. Dis. 1999, 22:599-607.
13. Bayley N. Bayley Scales of Infant Development-II 1993, The Psychological Corporation, San Antonio, TX.
14. Wechsler D. Wechsler Preschool and Primary Scale of Intelligence 2002, Psychological Corporation, San Antonio, TX, (WPPSI-III). 3rd edition.
15. Sparrow S., Balla D.A., Cicchetti D.V. Vineland Adaptive Behavior Scales, Interview Edition, Survey Form Manual: A Revision of the Vineland Social Maturity Scales 1984, American Guidance Service, Circle Pines, MN.
16. Guigonis V., Frémeaux-Bacchi V., Giraudier S., Favier R., Borderie D., Massy Z., Rosenblatt D.S., Deschênes G. Late-onset thrombocytic microangiopathy caused by cblC disease: association with a factor H mutation. Am. J. Kidney Dis. 2005, 45:588-595.
17. Sharma A.P., Greenberg C.R., Prasad A.N., Prasad C. Hemolytic uremic syndrome (HUS) secondary to cobalamin C (cblC) disorder. Pediatr. Nephrol. 2007, 22:2097-2103.
18. Akdal G., Yener G.G., Kurt P. Treatment responsive executive and behavioral dysfunction associated with vitamin B12 deficiency. Neurocase 2008, 14:147-150.
19. Tangney C.C., Tang Y., Evans D.A., Morris M.C. Biochemical indicators of vitamin B12 and folate insufficiency and cognitive decline. Neurology 2009, 72:361-367.
20. O'Shea C.J., Sloan J.L., Wigges E.A., Pao M., Gropman A., Baker E.H., Manoli I., Venditti C.P., Snow J. Neurocognitive phenotype of isolated methylmalonic acidemia. Pediatrics 2012, 129:1541-1551.
21. Beauchamp M.H., Anderson V., Boneh A. Cognitive and social profiles in two patients with cobalamin C disease. J. Inherit. Metab. Dis. 2009, 32(Suppl. 1):S327-S334.
22. Boxer A.L., Kramer J.H., Johnston K., Goldman J., Finley R., Miller B.L. Executive dysfunction in hyperhomocystinemia responds to homocysteine-lowering treatment. Neurology 2005, 64:1431-1434.
23. Bodamer O.A., Sahoo T., Beaudet A.L., O'Brien W.E., Bottiglieri T., Stöckler-Ipsiroglu S., Wagner C., Scaglia F. Creatine metabolism in combined methylmalonic aciduria and homocystinuria. Ann. Neurol. 2005, 57:557-560.
24. Smith S.E., Kinney H.C., Swoboda K.J., Levy H.L. Subacute combined degeneration of the spinal cord in cblC disorder despite treatment with B12. Mol. Genet. Metab. 2006, 88:138-145.
25. Huemer M., Simma B., Fowler B., Suormala T., Bodamer O.A., Sass J.O. Prenatal and postnatal treatment in cobalamin C defect. J. Pediatr. 2005, 147:469-472.
26. Debray F.G., Boulanger Y., Khiat A., Decarie J.C., Orquin J., Roy M.S., Lortie A., Ramos F., Verhoeven N.M., Struys E., Blom H., Jakobs C., Levy E., Mitchell G.A., Lambert M. Reduced brain choline in homocystinuria due to remethylation defects. Neurology 2008, 71:44-49.
27. Lipton S.A., Kim W.K., Choi Y.B., Kumar S., D'Emilia D.M., Ruyudu P.V., Arnelle D.R., Stamler J.S. Neurotoxicity associated with dual actions of homocysteine at the N-methyl-d-aspartate receptor. Proc. Natl. Acad. Sci. U. S. A. 1997, 94:5923-5928.
28. Harding C.O., Pillers D.A., Steiner R.D., Bottiglieri T., Rosenblatt D.S., Debley J., Michael Gibson K. Potential for misdiagnosis due to lack of metabolic derangement in combined methylmalonic aciduria/hyperhomocysteinemia (cblC) in the neonate. J. Perinatol. 2003, 23:384-386.
29. Mares P., Folbergrova J., Kubova H. Excitatory amino acids and epileptic seizures in immature brain. Physiol. Res. 2004, 53(Suppl. 1):S115-S124.
30. Kamath A.F., Chauhan A.K., Kisucka J., Dole V.S., Loscalzo J., Handy D.E., Wagner D.D. Elevated levels of homocysteine compromise blood-brain barrier integrity in mice. Blood 2006, 107:591-593.
31. Seshradi S., Beiser A., Selhub J., Jacques P.F., Rosenberg I.H., D'Agostino R.B., et al. Plasma homocysteine as a risk factor for dementia and Alzheimer's disease. N. Engl. J. Med. 2002, 346:476-483.
32. 12 and brain development. Eur. J. Pediatr. 1987, 146:201-205.
33. Martinelli D., Dotta A., Massella L., Picca S., Di Pede A., Boenzi S., Aiello C., Dionisi-Vici C. Cobalamin C defect presenting as severe neonatal hyperammonemia. Eur. J. Pediatr. 2011, 170:887-890.
34. McGuire P.J., Parikh A., Diaz G.A. Profiling of oxidative stress in patients with inborn errors of metabolism. Mol. Genet. Metab. 2009, 98:173-180.
35. Richard E., Jorge-Finnigan A., Garcia-Villoria J., Merinero B., Desviat L.R., Gort L., Briones P., Leal F., Perez-Cerda C., Ribes A., Ugarte M., Perez B., MMACHC Working Group Genetic and cellular studies of oxidative stress in methylmalonic aciduria (MMA) cobalamin deficiency type C (cblC) with homocystinuria (MMACHC). Hum. Mutat. 2009, 30:1558-1566.
36. Pastore A., Martinelli D., Piemonte F., Tozzi G., Boenzi S., Di Giovamberardino G., Petrillo S., Bertini E., Dionisi-Vici C. Glutathione metabolism in cobalamin deficiency type C (cblC). J. Inherit. Metab. Dis. 2013, (Epub ahead of print).
37. Perrachi M., Bamonti Catena F., Pomati M., De Franceschi M., Scalabrino G. Human cobalamin deficiency: alterations in serum tumor necrosis factor-α and epidermal growth factor. Eur. J. Haematol. 2001, 67:123-127.
38. 12 deficiency on neurodevelopment in infants: current knowledge and possible mechanisms. Nutr. Rev. 2013, 66:250-255.
39. Bender H.A., Zaroff C.M., Karantzoulis S., Nakhutina L., MacAllister W.S., Luciano D. Cognitive and behavioral function in Coffin-Siris syndrome and epilepsy: a case presentation. J. Genet. Psychol. 2011, 172:56-66.