Asymptomatic maternal combined homocystinuria and methylmalonic aciduria (cblC) detected through low carnitine levels on newborn screening.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 19914430.
- Also identified by DOI 10.1016/j.jpeds.2009.06.046.
- No licence information is recorded for this record.
- Because redistribution is not established, this page shows the abstract only. Follow the links below for the full text.
Abstract
A symptom-free woman gave birth to a girl with a low carnitine level on newborn screening. The baby was unaffected, but the mother had biochemical abnormalities and mutations characteristic of the cblC defect of vitamin B(12) metabolism (late-onset form). This patient with cblC was detected through her infant's newborn screening.
Medical subject headings
- Carnitine
- Homocystinuria
- Neonatal Screening
- Puerperal Disorders