Diagnosis and treatment of secondary methylmalonic aciduria due to maternal vitamin B_(12) deficiency
- VernacularTitle:母亲维生素B_(12)缺乏导致婴儿继发性甲基丙二酸尿症的诊断与治疗分析
- Author:
Ning QIAN
;
Xinlin HOU
;
Yanling YANG
- Publication Type:Journal Article
- Keywords:
Vitamin B_(12) deficiency;
Methylmalonic acid;
Mass pragmentography
- From:
Chinese Journal of Perinatal Medicine
1998;0(03):-
- CountryChina
- Language:Chinese
-
Abstract:
Objective To investigate the causes, diagnosis and treatment of infants with secondary methylmalonic aciduria due to maternal vitamin B 12 deficiency. Methods The clinical, laboratory data and treatment of 7 children with secondary methylmalonic aciduria and their mothers′ health and nutrition were retrospectively reviewed. Results All children were presented to the hospital with vomiting, seizures or mental retardation during 1 to 13 months after birth. Varied degrees of anemia was found in 6 infants and 5 with metabolic acidosis and liver dysfunction. Methylmalonic aciduria was found in all subjects. Four of the mothers had chronic gastritis, one with gallstones in liver and gallbladder and one was a vegetarian. Decreased serum level of vitamin B 12 and folic acid and elevated homocystine concentrations were found in all mothers. After vitamin B 12 and folic acid supplementation, significant improvement was observed in all patients. Six infants showed normal development and one had mild mental retardation. Conclusions Chronic gastritis, liver/gall bladder diseases or being a vegetarian might lead to maternal vitamin B 12 deficiency and then infantile secondary methylmalonic aciduria. Early diagnosis and vitamin B 12 and folic acid supplement are crucial in improving the prognosis.
