Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0020639 (hypoproteinemia)
 1,134 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

In young children on CAPD, hypoproteinemia and malnutrition are often observed. We used essential amino acid-containing dialysate (EAAD) to assess short-term effectiveness on serum amino acid concentrations in young children undergoing CAPD. EAAD consisted of a 540 ml, 1.5% glucose-containing dialysate and 100 ml of 7.4% essential amino acid (EAA) solution. Aside from methionine, all serum EAA rose during the 6 hour peritoneal dialysis cycle using EAAD, peaking at about 200% of pre-treatment level one hour after start of treatment. They then returned to near pre-treatment levels at the end of the cycle. However, serum methionine increased 680% of pre-treatment level, one hour after start and 390% at the end of the cycle. In the serum non-EAA tyrosine, which showed low levels in patients with chronic renal failure, increased after EAAD treatment. Other non-EAA, most of which showed increased levels in patients with chronic renal failure, decreased after EAAD treatment. These changes in serum amino acids suggest that EAA, absorbed from EAAD, may have increased uptake of non-EAA in protein synthesis. This may improve the nutritional status of young children on CAPD.
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PMID:Effect of short-term essential amino acid-containing dialysate in young children on CAPD. 204 29

The antitumor effect of an amino acid imbalance characterized by the absence of L-methionine was investigated in AH-109A ascites hepatoma-bearing rats with the technique of total parenteral nutrition (TPN). A central venous catheter was placed at the superior vena cava of the rat and hypertonic glucose solution plus an amino acid mixture, an ordinary amino acid compound but lacking L-methionine and L-cysteine, was administered as protein source for seven days. Increases in the volume of ascites and the number of tumor cells were significantly inhibited in the rats receiving glucose plus L-methionine-free amino acid mixture compared to the control rats given glucose only, glucose plus ordinary amino acid mixture and laboratory rations. Unfavorable side effects of TPN with amino acid compound lacking L-methionine and L-cysteine were loss of body weight and development of hypoproteinemia. No evidence of hepatic injury and bone marrow suppression due to this treatment were obtained from the results of biochemical and hematological studies. In liver cells and ascites tumor cells, morphologically, prominent enlargement of the nucleoli was observed in the rats treated with the amino acid mixture lacking of L-methionine and L-cysteine.
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PMID:Inhibitory effect of L-methionine-deprived amino acid imbalance using total parenteral nutrition on growth of ascites hepatoma in rats. 310 65

Impairments of protein metabolism, expressed as predominance of catabolism over anabolism and hypoproteinemia, were observed in one month old rats with experimental burns of the IIIA-IIIB degree, when 20-25% of a body surface was impaired. After administration of steroid drugs (retabolyl at a dose of 1 mg/100 g of body mass or oxymetacyl--4-methyl-5-oxyuracil---at a dose of 5 mg/100 g of body mass) content of protein and urea normalized in blood serum, activity of cathepsin D decreased in tissues, the rate of 35S-methionine incorporation into tissue proteins increased. The pyrimidine derivative oxymetacyl exhibited higher effect on protein metabolism in burns of preadolescent rats as compared with retabolyl.
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PMID:[Effect of retabolyl and oxymetacyl on protein metabolism in experimental burns in immature rats]. 344 45

The etiology of the severe hepatic dysfunction associated with total parenteral nutrition (TPN) remains unknown, but recent studies suggest that taurine deficiency may be associated with the development of cholestasis in experimental animals. That taurine deficiency might also play a role in the development of the severe hepatic dysfunction in human infants receiving TPN as their sole nutritional intake is the subject of the present report. Serial plasma aminograms were obtained from three children with severe hepatic dysfunction associated with TPN, in whom progressive disease led to death after 20, 13, and 14 months. All three children underwent massive intestinal resection for necrotizing enterocolitis, leaving 30, 44, and 17 cm of viable small bowel, respectively. Balanced TPN was given as 20 to 25 g/kg/d dextrose, 1.5 to 2.5 g/kg/d crystalline amino acids, and 2 to 3 g/kg/d fat emulsion; enteral feedings were attempted but were poorly tolerated. Mild cholestasis progressed to severe hepatic dysfunction manifested by hyperbilirubinemia, increased serum transaminases, hypoproteinemia, and abnormal coagulation profiles. Liver histology revealed extensive fibrosis, fatty replacement, and coarse cholestasis, necrosis not being prominent. Serial plasma aminograms revealed markedly elevated plasma levels of methionine (1353, 1168, and 113 nm/mL), low levels of 1/2 cystine (68.4, trace, and 17 nm/dL), and undetectable levels of taurine; plasma levels of branched-chain amino acids were normal.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Taurine deficiency in the severe hepatic dysfunction complicating total parenteral nutrition. 643 24

Citrin, encoded by SLC25A13, is a liver-type mitochondrial aspartate-glutamate carrier (AGC), of which deficiency, in autosomal recessive trait, causes neonatal intrahepatic cholestasis (NICCD) and adult-onset type II citrullinemia (CTLN2). NICCD patients have jaundice, hypoproteinemia, hypoglycemia, galactosemia, growth retardation, fatty liver and multiple aminoacidemia including citrulline, methionine, threonine and tyrosine. Some of the neonates who have experienced NICCD suffer from severe CTLN2 more than 10 years or several decades later. In CTLN2, neuropsychotic symptoms such as disorientation, aberrant behavior, coma and death are observed. Laboratory findings reveal hyperammonemia, citrullinemia, fatty liver and liver-specific decrease in a urea cycle enzyme, argininosuccinate synthetase (ASS). In some cases, hyperlipidemia, pancreatitis and hepatoma are accompanied with CTLN2. Citrin as a liver-type AGC plays a role in supplying aspartate to the cytosol for urea, protein and nucleotide synthesis by exchanging mitochondrial aspartate for cytosolic glutamate and proton, and transporting cytosolic NADH reducing equivalent to mitochondria as a member of malate aspartate shuttle essential for aerobic glycolysis. AGC is also important for gluconeogenesis from lactate. Although it is difficult to explain pathogenesis of the symptoms such as cholestasis in NICCD and liver-specific decrease of ASS protein in CTLN2 from the functions of the AGC, some are understandable by the loss of citrin functions. Many CTLN2 patients have been treated with a low protein and high carbohydrate diet and glycerol at the hyperammonemic coma. We argue that those treatments may result in fatty liver, hyperlipidemia, hyperammonemia and even death due to loss of the citrin functions. Loss of citrin first cause deficiency of aspartate in the cytosol, which results in an increase in cytosolic NADH/NAD(+) ratio and then activation of fatty acid synthesis pathway to compensate the aberrant ratio. This follows inhibition of fatty acid oxidation. The peculiar fondness for food of CTLN2 patients who like protein and dislike carbohydrate and sweets may be related to their metabolic requirements.
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PMID:Metabolic derangements in deficiency of citrin, a liver-type mitochondrial aspartate-glutamate carrier. 1619 99

Plant proteins have a reduced content of essential amino acids in comparison to animal proteins. A significant reduction of limiting amino acids (methionine, lysine, tryptophan) means lower protein synthesis. In subjects with predominant or exclusive consumption of plant food a higher incidence of hypoproteinemia due to significant reduction of methionine and lysine intakes was observed. On the other hand, lower intake of these amino acids provides a preventive effect against cardiovascular disease via cholesterol regulation by an inhibited hepatic phospholipid metabolism. Vegetarians have a significantly higher intake of non-essential amino acids arginine and pyruvigenic amino acids glycine, alanine, serine. When plant protein is high in non-essential amino acids, down-regulation of insulin and up-regulation of glucagon is a logical consequence. The action of glucagon in the liver is mediated by stimulation of adenyl cyclase that raises cyclic-AMP (adenosine-3,5-monophosphate) concentrations. Cyclic-AMP down-regulates the synthesis of a number of enzymes required for de novo lipogenesis and cholesterol synthesis, up-regulates key gluconeogenic enzymes and the LDL receptors and decreases the IGF-1 activity (insulin-like growth factor). Cyclic-AMP thus provides a reduction of atherosclerosis risk factors as well as a retardation of cancer development. A sufficient consumption of plant proteins has the protective effects against chronic degenerative diseases (Tab. 2, Ref. 26).
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PMID:Health benefits and risks of plant proteins. 1620 43

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

Citrin is a liver-type mitochondrial aspartate-glutamate carrier encoded by the SLC25A13 gene, and its deficiency causes adult-onset type II citrullinemia and neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). Here, the authors investigated clinical findings in Korean infants with NICCD and performed mutation analysis on the SLC25A13 gene. Of 47 patients with neonatal cholestasis, three infants had multiple aminoacidemia (involving citrulline, methionine, and arginine) and galactosemia, and thus were diagnosed as having NICCD. Two of these three showed failure to thrive. The laboratory findings showed hypoproteinemia and hyperammonemia, and liver biopsies revealed micro-macrovesicular fatty liver and cholestasis. The three patients each harbored compound heterozygous 1,638-1,660 dup/ S225X mutation, compound heterozygous 851del4/S225X mutation, and heterozygous 1,638-1,660 dup mutation, respectively. With nutritional manipulation, liver functions were normalized and catch-up growth was achieved. NICCD should be considered in the differential diagnosis of cholestatic jaundice in Korean infants.
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PMID:Neonatal intrahepatic cholestasis caused by citrin deficiency in Korean infants. 1816 5

When blood plasma proteins are depleted by bleeding with return of the washed red blood cells (plasmapheresis) it is possible to bring dogs to a steady state of hypoproteinemia and a uniform plasma protein production on a basal low protein diet. These dogs are clinically normal. By the introduction of variables into their standardized existence insight into the formation of plasma proteins can be obtained. The liver basal diet maintains health in such hypoproteinemic dogs during periods as long as a year. 17 to 27 per cent of its protein content (entirely liver protein) is presumably converted into plasma protein. Gelatin alone added to the liver basal diet causes very little if any extra plasma protein production. The addition to gelatin of cystine, or tyrosine, or tryptophane, or of both tyrosine and tryptophane has little or no effect on its potency for plasma protein production. When gelatin is supplemented by cystine and either tryptophane or tyrosine, 25 to 40 per cent of the protein content of the combination is converted into plasma protein-an efficiency equaling that of any protein hitherto tested. Preliminary experiments indicate that methionine cannot substitute for cystine nor can phenylalanine substitute for tyrosine in the efficient combination of gelatin plus cystine plus tyrosine. Laked red blood cells given by vein afford little or no material for plasma protein formation. When the reserve stores of plasma protein building material are exhausted the dog can form little if any plasma protein during protein-free diet periods.
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PMID:BLOOD PLASMA PROTEIN PRODUCTION AS INFLUENCED BY AMINO ACIDS : CYSTINE EMERGES AS A KEY AMINO ACID UNDER FIXED CONDITIONS. 1987 Aug 73

When blood plasma proteins are depleted by bleeding with return of the washed red blood cells (plasmapheresis) it is possible to bring dogs to a steady state of hypoproteinemia and a uniform plasma protein production on a basal low protein diet. These dogs are clinically normal. Introduction of variables into their standardized life gives insight into the production of plasma protein. Casein retested as the basal protein in the ration may show high yield of plasma protein, equal to 33 per cent of the protein fed. This equals the potency of liver protein (17 to 33 per cent) and approaches the utilization of plasma protein by mouth (40 per cent). Zein has no effect upon plasma protein regeneration but when it is supplemented with cystine, tryptophane, lysine, and glycine, there is a doubling of the liver basal plasma protein production and a retention of the fed protein nitrogen. Threonine does not modify the above reaction. Liver protein supplemented with cystine, leucine, glutamic acid, and glycine in the basal diet yields double the amount of new formed plasma protein compared with liver alone. This combination is then as potent as plasma protein itself when given by mouth-40 per cent utilization. Tyrosine or lysine, arginine, and isoleucine do not modify the above responses. Methionine is not as effective as cystine in supplementing gelatin and tyrosine to produce plasma protein. Cystine, leucine, and glutamic acid appear to be of primary importance in the building of new plasma protein in these experiments. Plasma protein formation is dependent upon materials coming from the body reserve and from the diet. Given an exhaustion of the reserve store there is very little plasma protein produced during a protein fast (3 to 6 gm. per week). A turpentine abscess does not modify this fasting plasma protein reaction. Homologous plasma given by vein will promptly correct experimental hypoproteinemia due to bleeding. It will maintain nitrogen equilibrium and replenish protein stores. Even during hypoproteinemia plasma protein may promptly pass out of the circulation to supply body needs for protein. Perhaps the most significant concept which derives from all these experiments is the fluidity of the body protein (including plasma protein)-a ready give and take between the protein depots-a "dynamic equilibrium" of body protein.
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PMID:BLOOD PLASMA PROTEIN PRODUCTION AND UTILIZATION : THE INFLUENCE OF AMINO ACIDS AND OF STERILE ABSCESSES. 1987 Sep 63


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