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
http://www.fodsupport.org

Organic Acidemia Association
Http://www.oaanews.org

Save Babies through Screening Foundation
http://www.savebabies.org

Genetic Alliance
http://www.geneticalliance.org

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