Fatty Acid Oxidation Disorders |
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| Disease Name | Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency |
| Alternate name(s) | L-3-@hydroxyacyl-CoA dehydrogenase deficiency, SCHAD deficiency |
| Acronym | SCHAD or SCHADD |
| Disease Classification | Fatty Acid Oxidation Disorder |
| Variants | None known |
| Variant name | N/A |
| Symptom onset | Extremely variable – neonatal onset to adult onset. In addition, SCHADD has been implicated as a cause in a small minority of SIDS cases. |
| Symptoms | Hypoketotic hypoglycemia, recurrent myoglobinuria, encephalopathy, cardiomyopathy, ketotic hypoglycemia, failure to thrive, hypotonia and liver problems. |
| Natural history without treatment | Extremely variable. Neonatal presentation consisted of difficulty with feeding, failure to thrive, hypotonia and an elevated CPK. A sixteen year old presented with recurrent myoglobinuria and hypoketotic hypoglycemia. |
| Natural history with treatment | Treatment should prevent liver problems. The effectiveness of treatment in managing other symptoms is not known. Treatment will not reverse CNS damage due to hypoglycemic episodes. |
| Treatment | Avoidance of fasting, low-fat diet, carnitine supplementation, possible cornstarch supplementation. |
| Other | N/A |
| Physical phenotype | None reported |
| Inheritance | Autosomal recessive |
| General population incidence | Rare, exact incidence unknown |
| Ethnic differences | None |
| Population | N/A |
| Ethnic incidence | N/A |
| Enzyme location | Mitochondria of liver, kidney, heart and muscle tissue |
| Enzyme Function | Catalyzes the reversible dehydrogenation of 3-hydroxyacyl-CoAs to their corresponding 3-ketoacyl-CoAs |
| Missing Enzyme | Short-chain 3-hydroxyacyl-CoA dehydrogenase |
| Metabolite changes | Increased adipic, suberic, sebacic and 3-hydroxydicarboxylic acids, and increased carnitine esters in blood. Elevated insulin and elevated creatinine phosphokinase. However, this was based on a small number of patients. |
| Gene | SCHAD or HADHSC gene |
| Gene location | 4q22-q26 |
| DNA testing available | Research only |
| DNA testing detail | N/A |
| Prenatal testing | Analyte assay on amniocentesis |
| MS/MS Profile | N/A |
| OMIM Link | http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601609 |
| Genetests Link | www.genetests.org |
| Support Group | FOD Family Support Group Organic Acidemia Association Save Babies through Screening Foundation |
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