- Metabolite
- HMDB0000134 (Fumaric acid)
- Biospecimen
- Urine
- Status
- Detected and Quantified
- Data source
- Referenced
- Concentration
- 0-14.611 umol/mmol creatinine
- Age
- Infant (0-1 year old)
- Sex
- Both
- Condition
- Amish lethal microcephaly
Comments
n=16
References
- Kelley RI, Robinson D, Puffenberger EG, Strauss KA, Morton DH: Amish lethal microcephaly: a new metabolic disorder with severe congenital microcephaly and 2-ketoglutaric aciduria. Am J Med Genet. 2002 Nov 1;112(4):318-26. doi: 10.1002/ajmg.10529. [PubMed:12376931 ]