Fatty Acid Oxidation Disorders |
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 Save Babies through Screening Foundation |