Reversible pulmonary arterial hypertension in cobalamin-dependent cobalamin C disease due to a novel mutation in the MMACHC gene

European Journal of Pediatrics

Volumn 173, Issue 12, 2014, Pages 1707-1710

  Gündüz, Mehmet ^a   Ekici, Filiz ^a   Özaydın, Eda ^a   Ceylaner, Serdar ^b   Perez, Belen ^c  

^a ANKARA ONCOLOGY HOSPITAL   (Turkey)

^b Ankara Intergen Laboratory   (Turkey)

^c UNIVERSIDAD AUTÓNOMA DE MADRID   (Spain)

Author keywords

Cobalamin C disease; Pulmonary hypertension

Indexed keywords

CARRIER PROTEIN; CYANOCOBALAMIN; DNA; MMACHC PROTEIN, HUMAN;

CASE REPORT; COMPLICATION; ECHOCARDIOGRAPHY; FEMALE; GENETICS; HUMAN; HYPERTENSION, PULMONARY; INBORN ERROR OF METABOLISM; INFANT; LUNG WEDGE PRESSURE; METABOLISM; MUTATION; NUCLEOTIDE SEQUENCE;

CARRIER PROTEINS; DNA; DNA MUTATIONAL ANALYSIS; ECHOCARDIOGRAPHY; FEMALE; HUMANS; HYPERTENSION, PULMONARY; INFANT; METABOLISM, INBORN ERRORS; MUTATION; PULMONARY WEDGE PRESSURE; VITAMIN B 12;

EID: 84937511537     PISSN: 03406199     EISSN: 14321076     Source Type: Journal    
DOI: 10.1007/s00431-014-2330-6     Document Type: Article

References (17)

1. Arroliga AC, Sandur S, Jacobsen DW, Tewari S, Mustafa M, Mascha EJ, Robinson K (2003) Association between hyperhomocysteinemia and primary pulmonary hypertension. Respir Med 97:825–829
2. Blom HJ, Kleinveld HA, Boers GH, Demacker PN, Hak-Lemmers HL, Te Poele-Pothoff MT, Trijbels JM (1995) Lipid peroxidation and susceptibility of low-density lipoprotein to in vitro oxidation in hyperhomocysteinaemia. Eur J Clin Investig 25(3):149–154
3. Carrillo-Carrasco N, Chandler RJ, Venditti CP (2012) Combined methylmalonic acidemia and homocystinuria, CblC type. I. Clinical presentations, diagnosis and management. J Inherit Metab Dis 35:91–102
4. Hannibal L, Kim J, Brasch NE, Wang S, Rosenblatt DS, Banerjee R, Jacobsen DW (2009) Processing of alkylcobalamins in mammalian cells: a role for the MMACHC (cblC) gene product. Mol Genet Metab 97(4):260–266
5. Iodice FG, Chiara LD, Boenzi S, Aiello C, Monti L, Cogo P, Dionisi-Vici C (2013) Cobalamin C defect presenting with isolated pulmonary hypertension. Pediatrics 132(1):e248–e251
6. Kim J, Gherasim C, Banerje R (2008) Decyanation of vitamin B12 by a trafficking chaperone. Proc Natl Acad Sci U S A 105:14551–14554
7. Kömhoff M, Roofthooft MT, Westra D, Teertstra TK, Losito A, van de Kar NC, Berger RM (2013) Combined pulmonary hypertension and renal thrombotic microangiopathy in cobalamin C deficiency. Pediatrics 132(2):e540–e544
8. Lentz SR (1998) Mechanisms of thrombosis in hyperhomocysteinemia. Curr Opin Hematol 5:343–349
9. Lerner-Ellis JP, Tirone JC, Pawelek PD, Doré 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(1):93–100
10. Martinelli D, Deodato F, Dionisi-Vici C (2011) Cobalamin C defect: natural history, pathophysiology and treatment. J Inherit Metab Dis 34(1):127–135
11. Morel CF, Lerner-Ellis JR, Rosenblatt DS (2006) Combined methyl-malonic aciduria and homocystinuria (cblC): phenotype-genotype correlations and ethnic-specific observations. Mol Genet Metab 88(4):315–321
12. Pastore A, Martinelli D, Piemonte F, Tozzi G, Boenzi S, Di Giovamberardino G, Petrillo S, Bertini E, Dionisi-Vici C (2014) Glutathione metabolism in cobalamin deficiency type C (cblC). J Inherit Metab Dis 37(1):125–129
13. Profitlich LE, Kirmse B, Wasserstein MP, Diaz GA, Srivastava S (2009) High prevalence of structural heart disease in children with cblC-type methylmalonic aciduria and homocystinuria. Mol Genet Metab 98(4):344–348
14. Sharma AP, Greenberg CR, Prasad AN, Prasad C (2007) Hemolytic uremic syndrome (HUS) secondary to cobalamin C (cblC) disorder. Pediatr Nephrol 22(12):2097–2103
15. Stamler JS, Osborne JA, Jaraki O, Rabbani LE, Mullins M, Singel D, Loscalzo J (1993) Adverse vascular effects of homocysteine are modulated by endothelium-derived relaxing factor and related oxides of nitrogen. J Clin Investig 91(1):308–318
16. Tanpaiboon P, Sloan JL, Callahan PF, McAreavey D, Hart PS, Lichter-Konecki U, Zand D, Venditti CP (2013) Noncompaction of the ventricular myocardium and hydrops fetalis in cobalamin C disease. JIMD Rep 10:33–38
17. Zighetti ML, Cattaneo M, Falcon CR, Lombardi R, Harari S, Savoritto S, Mannucci PM (1997) Absence of hyperhomocysteinemia in ten patients with primary pulmonary hypertension. Thromb Res 85(3):279–282