Prenatal and postnatal treatment in cobalamin C defect.
OBJECTIVE
To evaluate prenatal treatment with hydroxycobalamin (OH-Cbl) in a pregnancy at risk for a severe form of the cobalamin C defect and postnatal treatment of the affected child.


METHODS
Observational study with non-randomized intervention.


RESULTS
In contrast to reported pregnancies with affected fetuses in which maternal methylmalonic aciduria was found in the last trimester of pregnancy, there was no maternal methylmalonic aciduria in our case, given prenatal treatment with intramuscular OH-Cbl. We did not find that the concentration of odd long-chain fatty acids in cord blood erythrocytes reflects fetal methylmalonic academia. After birth, the infant was treated with intramuscular OH-Cbl and oral carnitine. Oral folate and betaine were added as adjunct therapy to decrease plasma total homocysteine. Because of inadequate metabolic control, a diet reduced in natural protein was introduced. The child had normal developmental milestones but had nystagmus, hyperpigmented retinopathy, and discrete truncal muscular hypotonia.


CONCLUSIONS
Despite prenatal and postnatal treatment, adequate metabolic control, absence of metabolic crises, and normal developmental milestones, this patient with the cobalamin C defect had characteristic symptoms of the disease.
Huemer
Martina
M
Department of Pediatrics, Landeskrankenhaus, Feldkirch, Austria. martina.huemer@lkhf.at
Simma
Burkhard
B
Fowler
Brian
B
Suormala
Terttu
T
Bodamer
Olaf A
OA
Sass
Jörn Oliver
JO
D001622:Betaine / Q000627:therapeutic use; D002331:Carnitine / Q000627:therapeutic use; D005260:Female; D005492:Folic Acid / Q000627:therapeutic use; D006397:Hematinics / Q000008:administration & dosage / Q000627:therapeutic use*; D006801:Humans; D006879:Hydroxocobalamin / Q000008:administration & dosage / Q000627:therapeutic use*; D007231:Infant, Newborn; D008082:Lipotropic Agents / Q000627:therapeutic use; D008297:Male; D008661:Metabolism, Inborn Errors / Q000175:diagnosis / Q000188:drug therapy*; D011247:Pregnancy; D011295:Prenatal Care; D011296:Prenatal Diagnosis; D014806:Vitamin B 12 Deficiency / Q000175:diagnosis / Q000188:drug therapy* / Q000235:genetics*
D006397:Hematinics; D008082:Lipotropic Agents; D001622:Betaine; D005492:Folic Acid; D006879:Hydroxocobalamin; D002331:Carnitine