OMIM = Online Medalian Inheritance of Men

Detail information to gene locus by the National Center for Biotechnology Information NCBI:
less frequent observed after carnitine supplementation in MCT enriched formulas low ratios of
- unsaturated/saturated dicarboxylic acids (<0.1)
- 3-hydroxydecenedioic/3-hydroxydecanedioic acid
- 3-hydroxydodecanedioic/3-hydroxydecanedioic acid (<0.14)
- 3-hydroxyadipic/adipic acid (<0.02) due to MCT ingestion (Tserng 1996)
no consistent clinical signs or symptoms
onset, childhood
onset, infancy
onset, neonatal
Organic acids, urine
laboratory finding
Adipic acid15.00320.001.007.00mmol/mol creatinineurine
Suberic acid10.00600.001.0010.00mmol/mol creatinineurine
Sebacic acid10.00750.000.002.00mmol/mol creatinineurine
5-Hydroxyhexanoic acid7.00250.000.007.00mmol/mol creatinineurinechild
7-Hydroxyoctanoic acid25.00150.000.002.00mmol/mol creatinineurine
3-Hydroxyadipic acid/Adipic acid
2-Hydroxyadipic acid0.000.00 increasedurineno data
Dicarboxylic acids0.000.00 increasedurineno data
Tserng KYGriffin RL, Kerr DSDistinction of dicarboxylic aciduria due to medium-chain triglycerides feeding from that due to abnormal fatty acid oxidation and fasting in childrenMetabolism452162-1671996
Phang JMYeh GC, Scriver CRDisorders of proline and hyroxyproline metabolismThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.101125-11461995