PMID- 21602719 OWN - NLM STAT- MEDLINE DCOM- 20110901 LR - 20131121 IS - 1536-3678 (Electronic) IS - 1077-4114 (Linking) VI - 33 IP - 5 DP - 2011 Jul TI - Plasma homocysteine levels, methylene tetrahydrofolate reductase polymorphisms, and the risk of thromboembolism in children. PG - 330-3 LID - 10.1097/MPH.0b013e318219324f [doi] AB - INTRODUCTION: Hyperhomocystenemia (HHcy) is a risk factor for thrombosis in adults. Polymorphisms in methylene tetrahydrofolate reductase (MTHFR) enzyme may cause HHcy. Data on their role in pediatric thromboembolism (TE) are sparse. MATERIALS AND METHODS: Charts of patients from 1989 to 2007, with documented TE, were reviewed. Homocysteine (Hcy) levels were defined both as per the adult normal range and the age-specific normal ranges from literature. RESULTS: A total of 141 patients (67 females, 74 males) were identified. With age-specific normal ranges for Hcy, 15 patients were found to have HHcy: 6 had CT, 9 patients had CC, and none had TT MTHFR genotype. When adult normal range was used, HHcy (>12 mumol/L) was seen in 7 patients: 4 had CT and 3 had the CC genotype. Again, none had TT genotype. In addition, the mean Hcy levels were unaffected by sex and ethnicities, but universal folic acid supplementation (post 1996) lowered the mean. CONCLUSIONS: (1) Age-specific ranges for Hcy should be used in pediatrics for accurate diagnosis of HHcy. (2) MTHFR C677T polymorphism is not a risk factor in pediatric TE. (3) Folic acid supplementation could play a role in lowering the prevalence of HHcy. FAU - Nahar, Akash AU - Nahar A AD - Division of Hematology Oncology, Carman and Ann Adams Department of Pediatrics, Children's Hospital of Michigan, Wayne State University, Detroit, MI 48201, USA. FAU - Sabo, Cynthia AU - Sabo C FAU - Chitlur, Meera AU - Chitlur M FAU - Ravindranath, Yaddanapudi AU - Ravindranath Y FAU - Lusher, Jeanne AU - Lusher J FAU - Rajpurkar, Madhvi AU - Rajpurkar M LA - eng PT - Journal Article PL - United States TA - J Pediatr Hematol Oncol JT - Journal of pediatric hematology/oncology JID - 9505928 RN - 0LVT1QZ0BA (Homocysteine) RN - 12001-76-2 (Vitamin B Complex) RN - 935E97BOY8 (Folic Acid) RN - EC 1.5.1.20 (Methylenetetrahydrofolate Reductase (NADPH2)) SB - IM MH - Adolescent MH - Child MH - Child, Preschool MH - Female MH - Folic Acid/therapeutic use MH - Genetic Predisposition to Disease/epidemiology MH - Genotype MH - Homocysteine/*blood MH - Humans MH - Infant MH - Infant, Newborn MH - Male MH - Methylenetetrahydrofolate Reductase (NADPH2)/*genetics/metabolism MH - *Polymorphism, Genetic MH - Prevalence MH - Reference Values MH - Risk Factors MH - Thromboembolism/blood/*epidemiology/*genetics MH - Vitamin B Complex/therapeutic use MH - Young Adult EDAT- 2011/05/24 06:00 MHDA- 2011/09/02 06:00 CRDT- 2011/05/24 06:00 PHST- 2011/05/24 06:00 [entrez] PHST- 2011/05/24 06:00 [pubmed] PHST- 2011/09/02 06:00 [medline] AID - 10.1097/MPH.0b013e318219324f [doi] PST - ppublish SO - J Pediatr Hematol Oncol. 2011 Jul;33(5):330-3. doi: 10.1097/MPH.0b013e318219324f.