3-Hydroxyacyl-CoA Dehydrogenase Deficiency
HADH deficiency

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Prevalence (%) of clinical parameters based on data from 3 references describing 9 individuals







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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%)
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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 -



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