Prenatal diagnosis of methylmalonic aciduria by analysis of organic acids and total homocysteine in amniotic fluid

Fetal dilated cardiomyopathy: an unsuspected presentation of methylmalonic aciduria and hyperhomocystinuria, cblC type

“…For couples with a previously affected child, prenatal diagnosis has been reported by the measurement of MMA and total homocystine in amniotic fluid (Merinero et al, 1998;Morel et al, 2005;Zhang et al, 2008), and by the measurement of incorporation of labeled propionate or methyltetrahydrofolate in cultured chorionic villus cells or amniocytes performed in experienced laboratories (Morel et al, 2005). Molecular diagnosis is possible if the familial mutation(s) are known (Morel et al, 2005).…”

First Chinese case of successful pregnancy with combined methylmalonic aciduria and homocystinuria, cblC type

“…As techniques for neonatal screening and prenatal diagnosis develop, the number of the patients with inborn disorders of metabolism who can be screened and treated is increasing worldwide [18,22]. In addition, an increasing number of women with these disorders can now reach adulthood and become pregnant.…”

“…CblC is an inborn disorder of intracellular cobalamin metabolism and is the most common congenital organic aciduria in Mainland China [2,3,18]. Patients with the severe form of this condition always present with severe metabolic acidosis, hypotonia, developmental delay, encephalopathy and even death [4].…”

“…Plasma and urine total homocysteine were determined by fluorescence polarization immunoassay (reference range: 4-12 lmol/L in serum and <20 lmol/L in urine, respectively) [18,19].…”

Prenatal pharmacotherapy for fetal anomalies: a 2011 update

“…Case reports of maternal treatment with oral or intramuscular vitamin B12 for prenatal treatment of fetal methylmalonic acidemia (MMA) date as far back as 1975 (Ampola et al ., 1975; van der Meer et al ., 1990; Soda et al ., 1995; Zass et al ., 1995; Spada et al ., 1999; Huemer et al ., 2005; Zhang et al ., 2008). MMA can present prenatally as growth restriction or dilated cardiomyopathy (De Bie et al ., 2009), or postnatally with recurrent vomiting, failure to thrive, developmental retardation, and hepatomegaly.…”