3-Hydroxyacyl-CoA Dehydrogenase Deficiency |
Contact us |
| Return to database |
Prevalence (%) of clinical parameters based on data from 3 references describing 9 individuals
Add new symptom/sign to this disease
| Pubmed id number as a reference | Organ system affected | ||
| Number of patients in the reference | Percent affected patients (Between 0 and 1, eg. 0.1 = 10%) | ||
| Please provide your name and contact information as a reference | |||
| Name | Institute | Phone number | Email address |
List of symptoms
| Symptom/sign | Organ system | Percent affected | Pubmed id | Added on(yyyy-mm-dd) | Edit/add reference |
| 3-hydroxydicarboxylic aciduria | urinary | 100 % | 10347277 | 2011-12-05 | |
| Vomiting | digestive | 100 % | 8825408 | 2011-12-05 | |
| Seizures | nervous | 100 % | 8825408 | 2014-04-29 | |
| Seizures | nervous | 100 % | 21347589 | 2014-04-29 | |
| Hypoglycemia | circulatory | 100 % | 21347589 | 2014-04-29 | |
| Hyperammonemia | circulatory | 100 % | 21347589 | 2014-04-29 | |
| Hyperinsulinemia | circulatory | 100 % | 21347589 | 2014-04-29 | |
| 3-hydroxyglutaric aciduria | urinary | 100 % | 21347589 | 2014-04-29 | |
| Microcephaly | nervous | 75 % | 21347589 | 2014-04-29 | |
| Mental retardation | nervous | 75 % | 21347589 | 2014-04-29 | |
| Steatosis | digestive | 67 % | 10347277 | 2011-12-05 | |
| Hypoglycemia | multi | 50 % | 8825408 | 2011-11-21 | |
| Ketosis | circulatory | 50 % | 8825408 | 2011-11-21 | |
| Micrognathia | skeletal | 50 % | 8825408 | 2014-04-29 | |
| Hypertelorism | skeletal | 50 % | 8825408 | 2014-04-29 | |
| Increased blood transaminase | circulatory | 50 % | 8825408 | 2014-04-29 |
List of references:
Fatal hepatic short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase deficiency: clinical, biochemical, and pathological studies on three subjects with this recently identified disorder of mitochondrial beta-oxidation.
M J Bennett, S D Spotswood, K F Ross, S Comfort, R Koonce, R L Boriack, L IJlst, R J Wanders,
Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society - 1999
Mitochondrial short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase deficiency: a new defect of fatty acid oxidation.
M J Bennett, M J Weinberger, J A Kobori, P Rinaldo, A B Burlina,
Pediatric research - Jan 1996
Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: the clinical relevance of an early diagnosis and report of four new cases.
Esmeralda Martins, M Luis Cardoso, Esmeralda Rodrigues, Clara Barbot, Altina Ramos, Michael J Bennett, Elisa Leão Teles, Laura Vilarinho,
Journal of inherited metabolic disease - Jun 2011