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Prenatal diagnosis and therapy for a patient with vitamin B 12 ‐responsive methylmalonic acidaemia
Author(s) -
Soda H.,
Ohura T.,
Yoshida I.,
Aramaki S.,
Aoki K.,
Inokuchi T.,
Mikami H.,
Narisawa K.
Publication year - 1995
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf00710418
Subject(s) - methylmalonic acid , gestation , vitamin b12 , urine , creatinine , medicine , excretion , urinary system , endocrinology , vitamin , cyanocobalamin , pregnancy , biology , genetics
Summary The prenatal therapy is described of a patient with vitamin B 12 ‐responsive methylmalonic acidaemia during the last 10 days of gestation with oral administration of vitamin B 12 (20mg/day) given to a mother did not normalize her urinary excretion of methylmalonic acid (MMA), which was 14.5 mmol/mol creatinine at 32 weeks of gestation. Before delivery, the mother was excreting 18.9±3.3 mmol MMA/mol creatine (mean value at 7 days after vitamin B 12 therapy), as well as at 32–37 weeks of gestation with no therapy. After birth, the level of MMA in the infant's urine was remarkably elevated (500–700mmol/mol creatinine); the level of MMA in maternal urine decreased dramatically after delivery. Compared with two previous reports, the length of administration was not sufficient to reduce maternal MMA excretion. In future, the length of the therapy, route of administration and total dose of vitamin B 12 to maintain an efficient level of vitamin B 12 in an affected fetus should be considered.