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)

Hyperuricemia occurs frequently in patients with psoriasis. An increased purin breakdown due to the enhanced epidermal turnover was stressed as a reasonable explanation. To prove this theory serum uric acid, cholesterol, triglyceride levels and the average body overweight were determined in 318 untreated psoriatic patients and the parameters were correlated with the extent of psoriatic skin involvement. In more than 100 psoriatic patients treated by oral photochemotherapy (PUVA), uric acid serum levels were examined additionally after the PUVA clearing phase and during PUVA maintenance treatment. The present study demonstrates: (1) There is no relationship between the frequency of hyperuricemia and the extent of psoriatic skin involvement, indicating that the increased epidermal turn over may not play a role in psoriatic hyperuricemia. (2) The most reasonable explanation for elevated uric acid in psoriasis seems to be a combination of genetic predisposition and hyperalimentation. (3) No significant change was found in the incidence of hyperuricemia under the influence of photochemotherapy.
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PMID:Serum uric acid levels in untreated and PUVA-treated patients with psoriasis. 66 75

Little information is available regarding the correlation between Prader-Willi syndrome and urolithiasis. We report a patient with Prader-Willi syndrome with a renal uric acid (UA) stone. A 23-year-old male patient was admitted to our department with gross hematuria and left flank pain. The blood and urine examination demonstrated hyperuricemia with the presence of UA crystals in the urine. Excretory urography revealed a radiolucent stone (17 x 27 mm) in the left renal pelvis suggesting a UA stone. The stone was removed successfully using extracorporeal shockwave lithotripsy (ESWL) combined with medication for UA metabolism. The stone was thought to have formed as a result of overeating associated with Prader-Willi syndrome, and accompanying overproduction of purine.
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PMID:[A case of Prader-Willi syndrome accompanied with a renal stone]. 950 7

Prader-Willi syndrome is an uncommon multisystem genetic disorder caused by defects of chromosome 15 (15qll-ql3), often due to deletions or uniparental disomy The syndrome is characterized by neonatal hypotonia, dysmorphic facial features, short stature, motor and mental disabilities, behavioral changes, hyperphagia, precocious obesity and hypogonadotropic hypogonadism. We present a 17 year-old woman, with a previous genetic diagnosis of Prader-Willi syndrome and BMI of 74 Kg/m(2), that was admitted in anasarca, with marked cyanosis, dyspnea and oliguria. She presented high levels of blood urea, creatinine and aminotransferases, in addition to hyperkalemia and hyperuricemia. She had been in regular use of fluoxetine during the last six months, and evolved with severe high blood pressure and respiratory failure, which needed intensive care support. Moreover, sequels and clear signs of recent self-injuries were observed in her trunk, forearms and hands. The findings of morbid obesity, anasarca, self-injury, hyperuricemia and hypoxemia in Prader-Willi syndrome are emphasized.
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PMID:Morbid obesity in an adolescent with Prader-Willi syndrome. 1954 50

Bardet-Biedl syndrome (BBS) is a rare genetic disorder characterized by a wide range of phenotypic variability and associated with the development of life-threatening obesity. Birth weight tends to be normal, but rapid weight gain begins after the first year, probably due to polyphagia rather than abnormalities in energy metabolism. A morbidly obese 16-year-old male patient with BBS was referred to our institution, after nonsurgical methods of weight control had failed, for surgical treatment of his obesity. His preoperative body mass index (BMI) was 52.28 kg/m(2) (height, 1.84 m; weight, 177 kg) and was above the 99th centile for age and gender. The patient underwent laparoscopic Roux-en-Y gastric bypass (RYGBP). The postoperative period was uneventful. Three and a half years after the operation, the patient's weight has decreased to 118 kg (BMI, 34.85 kg/m(2)), while significant improvement in his hypertension, hyperuricemia, and mobility has been noted. In our BBS patient, RYGBP proved to be safe and effective; nevertheless, longer follow-up is required to evaluate the weight loss durability and to assess the lasting beneficial effect of surgical intervention on genetically determined co-morbidities.
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PMID:Roux-en-Y gastric bypass in an adolescent patient with Bardet-Biedl syndrome, a monogenic obesity disorder. 1984 73