TABLE 10

Genetic disorders due to transporter mutations

TransporterDisorderFeatures and/or Symptoms
SLC22A5 (OCTN2)Primary systemic carnitine deficiency syndromeCardiomyopathy, hypoglycemia, skeletal muscle myopathy
SLC10A2 (ASBT)Primary bile acid malabsorptionDiarrhea, steatorrhea, low plasma cholesterol levels
SLC29A3 (ENT3)H syndromeCutaneous hyperpigmentation, hearing loss, hepatosplenomegaly, heart anomalies, hypogonadism, short stature, hypertrichosis
ABCA1Tangier's diseaseMild hypertriglyceridemia, neuropathy, enlarged tonsils, premature atherosclerosis, splenomegaly, hepatomegaly
ABCB4 (MDR3)PFIC-IIIElevated serum γ-glutamyltranspeptidase, activity, high serum bile acid levels, hepatosplenomegaly, portal hypertension, pruritus, jaundice
ABCB11 (BSEP)PFIC-IIReduced bile acid secretion, progressive hepatic dysfunction at early age, normal serum γ-glutamyltranspeptidase activity
ABCC2 (MRP2)Dubin-Johnson syndromeConjugated hyperbilirubinemia, chronic jaundice, relatively benign clinical course
ABCC6 (MRP6)Pseudoxanthoma elasticumCalcifications of elastic fibers in arteries, and retina leading to arterial skin, insufficiency and macular degeneration
ABCG5/8SitosterolemiaAtherosclerosis at a young age, tendon xanthomas, arthralgias
ATP7BWilson's diseaseLiver disease due to copper accumulation, which requires transplantation, tremors, neurological and behavioral problems, brown pigment in cornea
ATP8B1PFIC-I/Byler's diseaseElevated serum bile acids, normal serum γ-glutamyltranspeptidase activity, decreased bile acid secretion, fat malabsorption, vitamin (lipid-soluble) deficiency, diarrhea, pancreatitis, pruritus, jaundice, hearing loss