Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0020505 (hyperphagia)
 6,116 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

beta-Aspartyl-methionine, -aspartic acid and -glutamic acid and gamma-glutamyl-threonine and -glycine were isolated and identified in human urine by ion-exchange chromatography, high-voltage paper electrophoresis, acid hydrolysis and determination of N-terminal amino acids of the isolated compounds, and comparison of their behaviors in paper electrophoresis and chromatography with those of the authentic compounds. The concentrations of acidic beta-aspartyl dipeptides in human urine were determined using an amino acid analyzer. Their concentrations were as follows: beta-aspartyl-glycine, male, 44.4 +/- 8.5, female, 61.4 +/- 18.9, child, 83.7 +/- 27.1; -alanine, male, 11.0 +/- 4.9, female, 20.7 +/- 12.0, child, 25.3 +/- 9.1; -glutamic acid, male, 10.0 +/- 3.7, female, 23.0 +/- 8.5, child, 20.4 +/- 7.5; -serine, male, 9.9 +/- 2.8, female, 13.6 +/- 3.8, child, 14.9 +/- 4.7; -aspartic acid, male, 4.3 +/- 1.0, female, 9.1 +/- 2.2, child, 18.4 +/- 6.5; -threonine, male 3.9 +/- 0.9, female, 5.8 +/- 1.1, child, 13.2 +/- 4.9 mumol/g creatinine (mean +/- S.D.). The order of the sum of their concentrations tended to be child greater than female greater than male. Patients receiving intravenous hyperalimentation also excreted acidic beta-aspartyl dipeptides into urine in amounts similar to those in females and in a pattern similar to that observed in healthy persons. This finding indicates that urinary beta-aspartyl dipeptides were probably of endogenous origin because oral nutrition was stringently excluded in these patients.
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PMID:Isolation and identification of urinary beta-aspartyl dipeptides and their concentrations in human urine. 3 58

The excitotoxin, N-methyl-D-aspartic acid (NMDA), was used to lesion cell bodies, but not fibers-of-passage, in the paraventricular hypothalamus. Bilateral injections of NMDA (12.6 nmol/100 nl) were made into the paraventricular hypothalamus in halothane-anesthetized male Sprague-Dawley rats. Water intake, food intake, urine output and body weight were measured daily for 26 days after lesioning. Lesioned rats exhibited a modest, but significant, reduction in the rate of gain of body weight, which was most closely correlated with decreases in food intake. Water intake and urine output were not significantly different among the groups. Resting blood pressure, heart rate and baroreflex sensitivity (using the infusion of phenylephrine method) were similar in conscious animals of both groups, 4-5 weeks after lesioning. Neuronal loss, primarily of parvocellular elements, was evident in the paraventricular hypothalamus and neuronal loss frequently extended into the ventro-medial thalamus adjacent to the paraventricular hypothalamus in NMDA-lesioned rats. In a second experiment, injections of NMDA were given acutely into the paraventricular hypothalamus of halothane-anesthetized rats. Upon recovery from anesthesia, behavioral excitation and increases in blood pressure and heart rate were evident for 1-2 hr. Histological examination of hearts taken 48 hr after injection of NMDA revealed a largely mononuclear inflammatory infiltration, hyperemia and myocardial hemorrhage and focal myocardial necrosis. Inflammatory and degenerative changes were most prominent in the left ventricular subendocardium. The cardiomyopathy possessed similarities with catecholamine-induced myocardial necrosis. The results indicated that NMDA-induced lesions of parvocellular elements of the paraventricular hypothalamus did not cause hyperphagia or obesity or alter the resting systemic circulatory function. However, an inflammatory cardiomyopathy, termed "excitotoxin-induced myocardial necrosis", was associated with injections of NMDA into the hypothalamus. Excitotoxin-induced myocardial necrosis may complicate any hemodynamic studies performed in rats in which lesions of the CNS have been produced by means of application of excitotoxins.
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PMID:Excitotoxic lesions of the paraventricular hypothalamus: metabolic and cardiac effects. 220 Sep 75

Monogenic obesity, caused by mutations in one of the genes involved in the control of hunger and satiety, is a rare cause of early onset obesity (EOO). The most common of the single gene alterations affect the leptin gene (LEP), resulting in congenital leptin deficiency that manifests as intense hyperphagia, EOO and severe obesity associated with hormonal and metabolic alterations. Only eight mutations of (LEP associated with congenital leptin deficiency have been described in humans to date. In this study, we report a novel, homozygous, missense mutation in exon 3 of the (LEP gene (chr7:127894610;c.298G>A) resulting in the amino acid substitution of asparagine for aspartic acid at codon 100 (p.Asp100Asn) in a 10-month-old infant who presented to us with severe hyperphagia and EOO. She was subsequently found to have low serum leptin concentrations. Additionally, a homozygous missense variation of unknown significance in exon 11 of Bardet-Biedl syndrome-1 gene (chr11:66291279; G>A; Depth 168x) was detected. Significant abnormalities of lipid parameters were also present in our patient. Both parents were thin but there was a family history suggestive of EOO in a paternal uncle and a cousin. In conclusion, we report the second patient from India with a novel mutation of the (LEP gene associated with severe obesity.
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PMID:Severe Early Onset Obesity due to a Novel Missense Mutation in Exon 3 of the Leptin Gene in an Infant from Northwest India 2921 99