SPCD is an autosomal recessive condition, meaning a mutated allele must be inherited from each parent for an individual to be affected. The gene responsible for the OCTN2<unk>  transporter is SLC22A5, located at 5q31.1-32. SLC22A5 is regulated by peroxisome proliferator-activated receptor alpha. The transporter, OCTN2, is located in the apical membrane of the renal tubular cells, where it plays a role in tubular reabsorption. The defective OCTN2 is unable to recapture<unk>  prior to its excretion in urine, leading to the characteristic biochemical findings of massively increased urine<unk>  levels and significantly decreased plasma<unk>  levels. Decreased levels of plasma<unk>  inhibit fatty acid oxidation during times of excessive energy demand.<unk>  is needed to transport long chain fatty acids into the mitochondria, where they can be broken down to produce acetyl-CoA. Individuals with SPCD cannot produce ketone bodies as energy due to the interruption of fatty acid oxidation. Although SPCD is an autosomal recessive condition, heterozygotes have been shown to be at an increased risk for developing benign cardiomyopathy compared to wild type individuals.
Systemic primary carnitine deficiency
Short-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency
Very long-chain acyl-coenzyme A dehydrogenase deficiency
Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
Carnitine-acylcarnitine translocase deficiency
Multiple carboxylase deficiency
Carnitine palmitoyltransferase II deficiency