title: Homocysteine, folate, lipid profile and MTHFR genotype and disability in children with myelomeningocele.
abstract: METHODS
  We performed a cross-sectional study in myelomeningocele children.
  
  
  OBJECTIVE
  To investigate plasma total homocysteine, folate, lipid profile, 5,10- metylenetetrahydrofolate reductase genotype (MTHFR) and disability.
  
  
  METHODS
  Sixty patients aged between 2 and 14 years with myelomeningocele (18 ambulatory and 42 non-ambulatory) and 150 healthy children of same age, are investigated for lipid profile, homocysteine concentration and for the determination of MTHFR genotype.
  
  
  RESULTS
  Plasma homocysteine concentrations were significantly higher in myelomeningocele children than in the control group. In myelomeningocele female group, there were higher levels of total cholesterol and very-low-density lipoprotein cholesterol with respect to the control group. Myelomeningocele children walking with tutorial aid showed triglyceride levels significantly lower than those observed in myelomeningocele non-walking children.
  
  
  CONCLUSIONS
  Disability, insulin uptake, lipid, homocysteine, hormones plasma levels, and genetic factors such as allelic variants of MTHFR are possible for cardiovascular disease in myelomeningocele children. This study highlights the importance of a continuous surveillance of any changes in the lipid profile that should be corrected as soon as possible. Constant physical activity necessary to increase HDL levels should be planned in all susceptible children. Nonetheless, further investigations are necessary to identify new homocysteine susceptible genes for prevention of early atherosclerosis and consequent cardiovascular disease.
authors.affiliation: Department of Paediatrics, Catholic University, Spina Bifida Center, Rome, Italy. c.rendeli@libero.it
authors.forename: Claudia
authors.initials: C
authors.lastname: Rendeli
authors.forename: Emanuele
authors.initials: E
authors.lastname: Ausili
authors.forename: Mario
authors.initials: M
authors.lastname: Castorina
authors.forename: Daniela
authors.initials: D
authors.lastname: Antuzzi
authors.forename: Fabrizia
authors.initials: F
authors.lastname: Tabacco
authors.forename: Massimo
authors.initials: M
authors.lastname: Caldarelli
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D019988:Children with Disabilities; D005260:Female; D005492:Folic Acid / Q000097:blood*; D006710:Homocysteine / Q000097:blood*; D006801:Humans; D008055:Lipids / Q000097:blood*; D008297:Male; D008591:Meningomyelocele / Q000097:blood / Q000235:genetics / Q000503:physiopathology; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D009154:Mutation; D012737:Sex Factors
chemical_list: D008055:Lipids; D006710:Homocysteine; D005492:Folic Acid; D042965:Methylenetetrahydrofolate Reductase (NADPH2)