Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P02794 (ferritin)
 17,525 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Antisera were raised in rabbits against histamine conjugated to human serum albumin (HSA) by the carbodiimide (ECDI) method. The specificity of the antisera was studied in a radioimmunoassay using 125I-protein A for detection of IgG binding. The HIS-HSA antisera reacted with histamine-HSA conjugates prepared by either the carbodiimide or diisocyanate coupling procedure, as well as with carbodiimide-prepared histamine-ferritin and histamine-ovalbumin conjugates. On the contrary, the antisera were unreactive with unconjugated HSA, ECDI-reacted HSA, or HSA conjugated to ethanolamine or pentylamine. Free unconjugated histamine significantly inhibited antibody binding to histamine-HSA and 50% inhibition of antibody binding (IC50) was recorded at 3 mM histamine concn. On a histamine molar concn basis a much lower inhibitory potency of free histamine was recorded, as compared to histamine-protein conjugates (IC50 = 3 X 10(-6) mM). This probably reflected amplification of antibody binding to the multivalent ligand, but possibly also that the protein carrier adds some common features to the antigenic determinant. Histidine, ornithine, glutamine, asparagine, sterylamine and several other amino acids lacked inhibitory effects. Histamine H1 and H2 receptor antagonists inhibited histamine binding to the histamine antibodies. The antagonists varied in their affinity for the histamine antibodies and 50% inhibition of antibody binding was recorded in the range of 1-50 mM concn of the antagonists. Comparing one H1 and one H2 antagonist (diphenhydramine and cimetidine, respectively) two of the sera were preferentially inhibited by cimetidine whereas the third serum seemed to be more prone to inhibition by diphenhydramine.
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PMID:Production and characterization of rabbit antibodies against histamine. 379 25

Renal Fanconi syndrome developed rapidly in a 3-year-old Moroccan girl with established lysinuric protein intolerance. She was hospitalized because of lowered consciousness, uncoordinated movements and hepatosplenomegaly after a febrile period. Laboratory investigations revealed plasma ammonia 270 micromol/L (normal <70 micromol/L), ferritin 159 micromol/L (normal 2-59 micromol/L), LDH 1180 U/L (normal 26-534 U/L). LPI was diagnosed based on the findings of reduced plasma ornithine, arginine and lysine, and an increased level of glutamine. Urinary orotic acid (645 micromol/mmol creatinine; normal <3.6) was strongly increased. A defect in the SLC7A7 amino acid transporter was established (homozygous c.726G > A mutation). Detailed renal function tests including an acid challenge test, bicarbonate loading, and tubular maximal reabsorption of glucose showed complex tubular dysfunction. No evidence of respiratory chain defects was found in muscle or kidney tissue. No morphological abnormalities were demonstrated in the mitochondria. Ultrastructural analysis of proximal tubular cells showed vacuolization and sloughing of the apical brush border (Fig. 1). Renal involvement in LPI has only been described in a few reports; however, no detailed studies of the renal acidification mechanism were performed. Our patient had evidence of a full-blown Fanconi syndrome. Surprisingly, a metabolic acidosis was found with a moderately increased serum anion gap combined with repeatedly normal plasma organic acid values. This finding is in contrast with the diagnosis of renal tubular acidosis. Patients with hyperlysinaemia have a similar heavy load on the renal tubules; they never develop a renal Fanconi syndrome. Therefore, we consider the intratubular accumulation of lysine an unlikely candidate for the development of the renal Fanconi syndrome.
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PMID:Renal Fanconi syndrome with ultrastructural defects in lysinuric protein intolerance. 1753 Apr 37

Lysinuric protein intolerance (LPI) is a rare inherited metabolic disease, caused by defective transport of dibasic amino acids. Failure to thrive, hepatosplenomegaly, hematological abnormalities, and hyperammonemic crisis are major clinical features. However, there has been no reported Korean patient with LPI as of yet. We recently encountered a 3.7-yr-old Korean girl with LPI and the diagnosis was confirmed by amino acid analyses and the SLC7A7 gene analysis. Her initial chief complaint was short stature below the 3rd percentile and increased somnolence for several months. Hepatosplenomegaly was noted, as were anemia, leukopenia, elevated levels of ferritin and lactate dehydrogenase, and hyperammonemia. Lysine, arginine, and ornithine levels were low in plasma and high in urine. The patient was a homozygote with a splicing site mutation of IVS4+1G > A in the SLC7A7. With the implementation of a low protein diet, sodium benzoate, citrulline and L-carnitine supplementation, anemia, hyperferritinemia, and hyperammonemia were improved, and normal growth velocity was observed.
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PMID:The first Korean case of lysinuric protein intolerance: presented with short stature and increased somnolence. 2287 67