Fatty Acid Oxidation Disorders

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Disease Name Carnitine transporter deficiency
Alternate name(s) Systemic carnitine deficiency, Carnitine deficiency, Carnitine uptake deficiency
Acronym SCD, CUD
Disease Classification Fatty Acid Oxidation Disorder
Variants N/A
Variant name

N/A
Symptom onset Infancy or childhood with fasting hypoglycemia, weakness and/or cardiomyopathy.
Symptoms Hypoketotic hypoglycemia, seizures, vomiting, lethargy progressing to coma. Chronic muscle weakness, cardiomyopathy, hepatomegaly.
Natural history without treatment Non-progressive developmental delay due to hypoglycemia, cardiomyopathy and muscle weakness.
Natural history with treatment Developmental delay, if present, is not reversed by treatment. Cardiomyopathy and muscle weakness can be reversed by treatment.
Treatment Carnitine supplementation, no fasting.
Other N/A
Physical phenotype Cardiomyopathy, muscle weakness.
Inheritance Autosomal recessive
General population incidence 1/40,000
Ethnic differences No
Population N/A
Ethnic incidence N/A
Enzyme location Muscle, heart, kidney, leukocytes and fibroblasts
Enzyme Function Transports carnitine into cells
Missing Enzyme Carnitine transporter
Metabolite changes Decreased free carnitine in plasma, increased carnitine in urine, decreased carnitine in muscle.
Gene SLC22A5
Gene location 5q33.1
DNA testing available May be available on a research basis.
DNA testing detail If a mutation in a proband is detected, DNA carrier screening is possible.
Prenatal testing Protein analysis in cultured amniocytes, biochemical analyte testing. If a mutation in a proband is detected, DNA prenatal diagnosis via CVS or amniocytes is possible.
MS/MS Profile Reduced concentrations of free carnitine and various acylcarnitine species.
OMIM Link http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=212140
Genetests Link www.genetests.org
Support Group

FOD Family Support Group
http://www.fodsupport.org

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

Genetic Alliance
http://www.geneticalliance.org
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