- Metabolite
- HMDB0002095 (Malonylcarnitine)
- Biospecimen
- Blood
- Status
- Detected and Quantified
- Data source
- Referenced
- Concentration
- 0.2 (0.13 - 0.3) uM
- Age
- Infant (0-1 year old)
- Sex
- Not Specified
- Condition
- Malonyl-CoA decarboxylase deficiency
References
- Ficicioglu C, Chrisant MR, Payan I, Chace DH: Cardiomyopathy and hypotonia in a 5-month-old infant with malonyl-coa decarboxylase deficiency: potential for preclinical diagnosis with expanded newborn screening. Pediatr Cardiol. 2005 Nov-Dec;26(6):881-3. [PubMed:16078122 ]