Clinical Signs and Symptoms
ORPHA:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
The phenotypic description of this disease is based on an analysis of the biomedical literature and uses the terms of the Human Phenotype Ontology (HPO). Phenotypic abnormalities are presented by order of frequency of occurrence in the patient population, then by alphabetical order inside each frequency group.
- Decreased activity of 3-hydroxyacyl-CoA dehydrogenase HP:0100950
- Abnormality of acetylcarnitine metabolism HP:0012071
- Confusion HP:0001289
- Diarrhea HP:0002014
- Dicarboxylic aciduria HP:0003215
- Elevated hepatic transaminase HP:0002910
- Fasting hyperinsulinemia HP:0008283
- Hepatic steatosis HP:0001397
- Hyperinsulinemic hypoglycemia HP:0000825
- Hypoglycemic encephalopathy HP:0006929
- Hypoglycemic seizures HP:0002173
- Hypoketotic hypoglycemia HP:0001985
- Increased C-peptide level HP:0030796
- Increased circulating free fatty acid level HP:0030781
- Intrauterine growth retardation HP:0001511
- Lethargy HP:0001254
- Neonatal hypoglycemia HP:0001998
- Neonatal hypotonia HP:0001319
- Proportionate short stature HP:0003508
- Vomiting HP:0002013
- Decreased plasma carnitine HP:0003234
- Failure to thrive HP:0001508
- Feeding difficulties in infancy HP:0008872
- Hyperammonemia HP:0001987
- Lactic acidosis HP:0003128
- Mildly elevated creatine kinase HP:0008180
- Motor delay HP:0001270
- Peripheral neuropathy HP:0009830
- Pigmentary retinopathy HP:0000580
- Prolonged prothrombin time HP:0008151
Specialised Social Services
The information provided is based on published scientific articles.
The information provided is estimated for the entire population of patients in routine care. Some phenotypic abnormalities reported here may occur individually with a variable temporality or severity, while others, not listed, may still be encountered. Phenotypic annotations are not yet available for all rare diseases; the annotation process is ongoing.
The information contained in Orphanet is regularly updated. It is possible that discoveries have been made since the last update and have not yet been incorporated.
Professionals are encouraged to always consult the latest scientific publications before making a decision based on the information provided. The information contained in Orphanet is not intended to replace the services of a healthcare professional. Orphanet cannot be held responsible for the deleterious, truncated or erroneous use of any information found in the Orphanet database.