Clinical onset and course, response to treatment and outcome in 24 patients with the cblE or cblG remethylation defect complemented by genetic and in vitro enzyme study data

Journal of Inherited Metabolic Disease

Volumn 38, Issue 5, 2015, Pages 957-967

  Huemer, M ^a,b,c   Burer C ^a,b   Jesina P ^d   Kozich V ^d   Landolt, M A ^a,b   Suormala, T ^a,b   Fowler, B ^a,b   Augoustides Savvopoulou, P ^e   Blair, E ^f   Brennerova, K ^g   Broomfield, A ^h   De Meirleir, L ⁱ   Gokcay G ^j   Hennermann, J ^k   Jardine, P ^l   Koch, J ^m   Lorenzl, S ^m   Lotz Havla, A S ⁿ   Noss, J ^o   Parini, R ^p   Peters, H ^q   Plecko, B ^a,r   Ramos, F J ^s   Schlune, A ^t   Tsiakas, K ^u   Zerjav Tansek, M ^v   Baumgartner, M R ^a,b   more..

^a UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^b UNIVERSITY OF ZURICH   (Switzerland)

^c Landeskrankenhaus Bregenz ^*  (Austria)

^d Charles University in Prague and General University Hospital in Prague   (Czech Republic)

^e ARISTOTLE UNIVERSITY OF THESSALONIKI   (Greece)

^f CHURCHILL HOSPITAL   (United Kingdom)

^g Children Hospital   (Slovakia)

^h ST MARY S HOSPITAL   (United Kingdom)

ⁱ UNIVERSITY HOSPITAL BRUSSELS   (Belgium)

^j ISTANBUL UNIVERSITY   (Turkey)

^k UNIVERSITY MEDICAL CENTER MAINZ   (Germany)

^l UNIVERSITY OF BRISTOL   (United Kingdom)

^m PARACELSUS MEDICAL UNIVERSITY   (Austria)

ⁿ LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^o Klinikum Dritter Orden   (Germany)

^p SAN GERARDO HOSPITAL   (Italy)

^q ROYAL CHILDREN'S HOSPITAL   (Australia)

^r Dept Biochem Anal Mass Spectrom Univ Childrens Hospital   (Austria)

^s HOSPITAL SANT JOAN DE DÉU   (Spain)

^t UNIVERSITY HOSPITAL DÜSSELDORF   (Germany)

^u UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^v UNIVERSITY MEDICAL CENTRE LJUBLJANA   (Slovenia)

more..

Author keywords

[No Author keywords available]

Indexed keywords

BETAINE; COBALAMIN; FOLIC ACID; HOMOCYSTEINE; METHIONINE; METHIONINE SYNTHASE; METHIONINE SYNTHASE REDUCTASE; 5 METHYLTETRAHYDROFOLATE HOMOCYSTEINE METHYLTRANSFERASE; CYANOCOBALAMIN; FERREDOXIN NICOTINAMIDE ADENINE DINUCLEOTIDE PHOSPHATE REDUCTASE;

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BRAIN ATROPHY; CHILD; CLINICAL ARTICLE; COGNITIVE DEFECT; CORRELATION ANALYSIS; DELAYED DIAGNOSIS; DEVELOPMENTAL DISORDER; DISABLED PERSON; DISEASE COURSE; EYE DISEASE; FAILURE TO THRIVE; FEEDING DIFFICULTY; FEMALE; FOLLOW UP; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HYPERTENSION; IN VITRO STUDY; INFANT; MACROCYTIC ANEMIA; MALE; METHIONINE SYNTHASE REDUCTASE REMETHYLATION DEFECT; METHIONINE SYNTHASE REMETHYLATION DEFECT; MICROCEPHALY; MUSCLE HYPOTONIA; ONSET AGE; OUTCOME ASSESSMENT; QUALITY OF LIFE; RETROSPECTIVE STUDY; SEIZURE; SKIN FIBROBLAST; SPEECH DISORDER; TREATMENT RESPONSE; VISUAL IMPAIRMENT; WHITE MATTER LESION; AMINO ACID METABOLISM, INBORN ERRORS; CELL CULTURE; DEFICIENCY; GENETICS; METABOLISM; METHYLATION; NEWBORN; PREGNANCY; PRESCHOOL CHILD; TREATMENT OUTCOME; YOUNG ADULT;

5-METHYLTETRAHYDROFOLATE-HOMOCYSTEINE S-METHYLTRANSFERASE; ADOLESCENT; AGE OF ONSET; AMINO ACID METABOLISM, INBORN ERRORS; CELLS, CULTURED; CHILD; CHILD, PRESCHOOL; DISEASE PROGRESSION; FEMALE; FERREDOXIN-NADP REDUCTASE; HUMANS; INFANT; INFANT, NEWBORN; MALE; METHYLATION; PREGNANCY; RETROSPECTIVE STUDIES; TREATMENT OUTCOME; VITAMIN B 12; YOUNG ADULT;

EID: 84940459296     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-014-9803-7     Document Type: Article

References (25)

1. Carmel R, Watkins D, Goodman SI, Rosenblatt DS (1988) Hereditary defect of cobalamin metabolism (cblG mutation) presenting as a neurologic disorder in adulthood. New Eng J Med 318:1738–1741
2. Carrillo-Carrasco N, Sloan J, Valle D, Hamosh A, Venditti CP (2009) Hydroxocobalamin dose escalation improves metabolic control in cblC. J Inherit Metab Dis 32(6):728–31
3. Dionisi-Vici C, Martinelli D, Ceravolo F, Boenzi S, Pastore A (2013) Optimizing the dose of hydroxocobalamin in cobalamin C (cblC) defect. Mol Genet Metab 109(4):329–330
4. Fowler B, Schutgens RBH, Rosenblatt DS, Smit GPA, Lindemans J (1997) Folate-responsive homocystinuria and megaloblastic anaemia in a female patient with functional methionine synthase deficiency (cblE disease). J Inher Metab Dis 20:731–741
5. Greitz D (2007) Paradigm shift in hydrocephalus research in legacy of Dandy’s pioneering work: rationale for third ventriculostomy in communicating hydrocephalus. Childs Nerv Syst 23:487–489
6. Harding CO, Arnold G, Barness LA, Wolff JA, Rosenblatt DS (1997) Functional methionine synthase deficiency due to cblG disorder: a report of two patients and a review. Am J Med Genetics 71:384–390
7. Kandula T, Peters H, Fahey M (2014) Cobalamin E defect, a rare inborn error of vitamin B12 metabolism: Value of early diagnosis and treatment. Clin Neurosci2014 May 17. pii: S0967-5868(14)00161-1. doi: 10.1016/j.jocn.2013.12.030
8. 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
9. Kvittingen EA, Spangen S, Lindemans J, Fowler B (1997) Methionine synthase deficiency without megaloblastic anaemia. Eur J Pediatr 156:925–930
10. Labrune P, Zittoun J, Duvaltier I, Trioche P, Marquet J, Niaudet P, Odievre M (1999) Haemolytic uraemic syndrome and pulmonary hypertension in a patient with methionine synthase deficiency. Eur J Pediatr 158:734–739
11. Müller P, Horneff G, Hennermann JB (2007) A rare inborn error of intracellular processing of cobalamin presenting with microcephalus and megaloblastic anemia: a report of 3 children. Klin Pädiatr 219:361–367
12. Outteryck O, de Sèze J, Stojkovic T et al (2012) Methionine synthase deficiency: a rare cause of adult-onset leukoencephalopathy. Neurology 79(4):386–388
13. Palanca D, Garcia-Cazorla A, Ortiz J et al (2013) CblE-type homocystinuria presenting with features of haemolytic-uremic syndrome in the newborn period. JIMD Rep 8:57–62
14. Poloschek CM, Fowler F, Unsold R, Lorenz B (2005) Disturbed visual system function in methionine synthase deficiency. Graefe’s Arch Clin Exp Ophthalmol 243:497–500
15. Richard E, Desviat LR, Ugarte M, Perez B (2013) Oxidative stress and apoptosis in homocystinuria patients with genetic remethylation defects. J Cell Biochem 114:183–191
16. Rosenblatt DS, Cooper BA, Schmutz SM, Zaleski WA, Casey RE (1985) Prenatal vitamin B12 therapy of a fetus with methylcobalamin deficiency (cobalamin E disease). Lancet 1(8438):1127–1129
17. Schiff M, Benoist JF, Tilea B, Royer N, Giraudier S, Ogier de Baulny H (2011) Isolated remethylation disorders: do our treatments benefit patients? J Inherit Metab Dis 34(1):137–145
18. Schuh S, Rosenblatt DS, Cooper BA, Schroeder ML, Bishop AJ, Seargeant LE, Haworth JC (1984) Homocystinuria and megaloblastic anemia responsive to vitamin B-12 therapy. New Engl J Med 310:686–690
19. Steen C, Rosenblatt DS, Scheying H, Braeuer HC, Kohlschütter A (1997) Cobalamin E (CblE) disease: a severe neurological disorder with megaloblastic anaemia, homocystinuria and low serum methionine. J Inherit Metab Dis 20:705–706
20. Suormala T, Baumgartner MR, Coelho D, Zavadakova P, Kozich V, Koch HG, Berghäuser M, Wraith JE, Burlina A, Sewell A, Herwig J, Fowler B (2004) The cblD defect causes either isolated or combined deficiency of methylcobalamin and adenosylcobalamin synthesis. J Biol Chem 279:42742–9
21. Surtees R (1998) Demyelination and inborn errors of the single carbon transfer pathway. Eur J Pediatr 157(Suppl 2):S118–21
22. Vilaseca MA, Vilarinho L, Zavadakova P et al (2003) CblE type of homocystinuria: mild clinical phenotype in two patients homozygous for a novel mutation in the MTRR gene. J Inherit Metab Dis 26(4):361–369
23. Watkins D, Ru M, Hwang HY et al (2002) Hyperhomocysteinemia due to methionine synthase deficiency, cblG: structure of the MTR gene, genotype diversity, and recognition of a common mutation, P1173L. Am J Hum Genet 71(1):143–153
24. Zavadakova P, Fowler B, Zeman J, Suormala T, Pristoupilová K, Kozich V (2002) CblE type of homocystinuria due to methionine synthase reductase deficiency: clinical and molecular studies and prenatal diagnosis in two families. J Inherit Metab Dis 25(6):461–76, Erratum in: J Inherit Metab Dis 2003;26(1):95
25. Zavadakova P, Fowler B, Suormala T et al (2005) cblE type of homocystinuria due to methionine synthase reductase deficiency: functional correction by minigene expression. Hum Mut 25:239–247