Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0020473 (hyperlipidemia)
 15,891 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is a kind of inborn errors of metabolism, with the main clinic manifestations of jaundice, hepatomegaly, and abnormal liver function indices. As a mitochondrial solute carrier protein, citrin plays important roles in aerobic glycolysis, gluconeogenesis, urea cycle, and protein and nucleotide syntheses. Therefore citrin deficiency causes various and complicated metabolic disturbances, such as hypoglycemia, hyperlactic acidemia, hyperammonemia, hypoproteinemia, hyperlipidemia, and galactosemia. This paper reported a case of NICCD confirmed by mutation analysis of SLC25A13, the gene encoding citrin. The baby (male, 6 months old) was referred to the First Affiliated Hospital with the complaint of jaundice of the skin and sclera, which it had suffered from for nearly 6 months. Physical examination showed obvious jaundice and a palpable liver 5 cm below the right subcostal margin. Liver function tests revealed elevated enzymatic activities, like GGT, ALP, AST, and ALT, together with increased levels of TBA, bilirubin (especially conjugated bilirubin), and decreased levels of total protein/albumin and fibrinogen. Blood levels of ammonia, lactate, cholesterol, and triglyceride were also increased, and in particular, the serum AFP level reached 319,225.70 microg/L, a extremely elevated value that has rarely been found in practice before. Tandem mass analysis of a dried blood sample revealed increased levels of free fatty acids and tyrosine, methionine, citrulline, and threonine as well. UP-GC-MS analysis of the urine sample showed elevated galactose and galactitol. The baby was thus diagnosed with suspected NICCD based on the findings. It was then treated with oral arginine and multiple vitamins (including fat-soluble vitamins A, D, E, and K), and was fed with lactose-free and medium-chain fatty acids enriched formula instead of breast feeding. After half a month of treatment, the jaundice disappeared, and the laboratory findings, including liver function indices, blood levels of ammonia, lactate and AFP, were returned to normal level. The baby was followed up for 6 months. It developed well, and the abnormal laboratory findings, including MS-MS and UP-GC-MS analysis results, have been corrected, except a slightly elevated lactate level sometimes. SLC25A13 gene mutation analysis for the patient revealed a compound heterozygote of mutation 851del4 and 1638ins23 and therefore NICCD was definitely diagnosed.
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PMID:[A difficult and complicated case study: neonatal intrahepatic cholestasis caused by citrin deficiency]. 1661 6

In this study, a 40% ethanol extract of Chinese yam flour (Dioscoreae rhizoma), containing 177 +/- 58 microg/mL of dioscin, was tested in order to evaluate its pharmacological effects on the gastrointestinal tracts of Sprague-Dawley rats. Via the ingestion of the Chinese yam extract, the secretion of gastric acid was suppressed in the rats, and gastrointestinal motility increased by as much as 10%. The fecal quantity of rats fed on the Chinese yam extract also increased, by more than 40% as compared with that of the controls. The Chinese yam extract was found not to affect the growth of normal intestinal bacteria. However, a great deal of lactose-fermenting bacteria was observed in the fecal samples of rats fed for 6 weeks on 2% Chinese yam extract. This finding would appear to suggest that Chinese yam extract not only induces an improvement in digestive capability, but also affects the conversion of some intestinal flora to helpful bacteria. Our serochemical analyses indicated that serum glucose, neutral lipid, and total cholesterol levels were reduced to some degree by long-term feeding on Chinese yam extract. This finding bolsters the notion that Chinese yam extract may prove helpful as a digestion-aiding agent for patients suffering from hyperglycemia or hyperlipidemia.
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PMID:Effect of ethanol extract of dried Chinese yam (Dioscorea batatas) flour containing dioscin on gastrointestinal function in rat model. 1675 78

Lactose-based prebiotics are synthesized by enzymatic- or microbial- biotransformation of lactose and have unique functional values. In this comprehensive review article, the biochemical mechanisms of controlling osteoporosis, blood-lipid, and glucose levels by lactose-based prebiotics and symbiosis with probiotics are reported along with the results of clinical investigations. Interaction between lactose-based prebiotics and probiotics reduces osteoporosis by (a) transforming insoluble inorganic salts to soluble and increasing their absorption to gut wall; (b) maintaining and protecting mineral absorption surface in the intestine; (c) increasing the expression of calcium-binding proteins in the gut wall; (d) remodeling osteoclasts and osteoblasts formation; (e) releasing bone modulating factors; and (f) degrading mineral complexing phytic acid. Lactose-based prebiotics with probiotics control lipid level in the bloodstream and tissue by (a) suppressing the expressions of lipogenic- genes and enzymes; (b) oxidizing fatty acids in muscle, liver, and adipose tissue; (c) binding cholesterol with cell membrane of probiotics and subsequent assimilation by probiotics; (d) enzymatic-transformations of bile acids; and (e) converting cholesterol to coprostanol and its defecation. Symbiosis of lactose-based prebiotics with probiotics affect plasma glucose level by (a) increasing the synthesis of gut hormones plasma peptide-YY, glucagon-like peptide-1 and glucagon-like peptide-2 from entero-endocrine L-cells; (b) altering glucose assimilation and metabolism; (c) suppressing systematic inflammation; (d) reducing oxidative stress; and (e) producing amino acids. Clinical investigations show that lactose-based prebiotic galacto-oligosaccharide improves mineral absorption and reduces hyperlipidemia. Another lactose-based prebiotic, lactulose, improves mineral absorption, and reduces hyperlipidemia and hyperglycemia. It is expected that this review article will be of benefit to food technologists and medical practitioners.
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PMID:Biological Activities of Lactose-Based Prebiotics and Symbiosis with Probiotics on Controlling Osteoporosis, Blood-Lipid and Glucose Levels. 3051 75