نتایج جستجو برای: carnitine transporter deficiency
تعداد نتایج: 190344 فیلتر نتایج به سال:
BACKGROUND A large number of birth defects are related to nutrient deficiencies; concern that biotin deficiency is teratogenic in humans is reasonable. Surprisingly, studies indicate that increased urinary 3-hydroxyisovalerylcarnitine (3HIAc), a previously validated marker of biotin deficiency, is not a valid biomarker in pregnancy. OBJECTIVE In this study we hypothesized that coexisting carn...
We have demonstrated in the present study that novel organic cation transporter (OCTN) 2 is a transporter for organic cations as well as carnitine. OCTN2 transports organic cations without involving Na(+), but it transports carnitine only in the presence of Na(+). The ability to transport organic cations and carnitine is demonstrable with human, rat, and mouse OCTN2s. Na(+) does not influence t...
Systemic primary carnitine deficiency (CDSP) is an autosomal recessive disorder of carnitine transportation. The clinical manifestations of CDSP can vary widely with respect to age of onset, organ involvement, and severity of symptoms, but are typically characterized by episodes of hypoketotic hypoglycemia, hepatomegaly, elevated transaminases, and hyperammonemia in infants; skeletal myopathy, ...
The organic cation/carnitine transporter OCTN2 is responsible for renal tubular reabsorption of its endogenous substrate, carnitine, although its physiological role in small intestine remains controversial. Here we present direct evidence for a predominant role of OCTN2 in small intestinal absorption of carnitine based on experiments with juvenile visceral steatosis (jvs) mice, which have a her...
In addition to its function as carnitine transporter, novel organic cation transporter type 2 (OCTN2; human gene symbol SLC22A5) is widely recognized as a transporter of drugs. This notion is based on several reports of direct measurement of drug accumulation. However, a rigorous, comparative, and comprehensive analysis of transport efficiency of OCTN2 has not been available so far. In the pres...
Primary carnitine deficiency (PCD) is a rare autosomal recessive disorder, caused by deficiency in the plasma membrane carnitine transporter. In this report, we aimed to describe the diagnosis and treatment of 12 PCD patients. Blood spots were collected from the children, and analysed using liquid chromatography-mass spectrometry (LC-MS). Newborns and children who had repeated lower dried blood...
L-carnitine is absorbed in the intestinal tract via the carnitine transporter OCTN2 and the amino acid transporter ATB(0,+). Loss-of-function mutations in OCTN2 may be associated with inflammatory bowel disease (IBD), suggesting a role for carnitine in intestinal/colonic health. In contrast, ATB(0,+) is upregulated in bowel inflammation. Butyrate, a bacterial fermentation product, is beneficial...
L-Carnitine is an amino acid derivative required for the β-oxidation of long-chain fatty acids, a process necessary for deriving energy from fat. Carnitine deficiency has been shown to cause dilated cardiomyopathy in a small population of dogs, and effects of carnitine deficiency on other tissue are being explored. Preliminary evidence reveals that feline hepatic lipidosis may result from a rel...
OBJECTIVE To establish criteria for the diagnosis of medium chain acyl-CoA dehydrogenase (MCAD) deficiency in the UK population using a method in which carnitine species eluted from blood spots are butylated and analysed by electrospray ionisation tandem mass spectrometry (ESI-MS/MS). DESIGN Four groups were studied: (1) 35 children, aged 4 days to 16.2 years, with proven MCAD deficiency (mos...
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