Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0015695 (fatty liver)
 13,941 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Three children with Leber's congenital amaurosis, agenesis of the cerebellar vermis, and infantile polycystic kidneys are described. The common clinical findings of three unrelated patients (two boys and one girl) included severe visual impairment from early infancy, profound psychomotor retardation, hypotonia, nystagmus, characteristic facial appearance with blepharoptosis, and progressive chronic renal insufficiency. The two boys died of uremia at ages 13 and 12 years. The common pathological findings in these two patients consisted of minor disproportions of cerebral lobes, almost total aplasia of the cerebellar vermis, micropolygyria of the dentate nuclei, malformations of the brain stem (including pachygyria of the inferior olivary nuclei and partial absence and anomalous position of the pyramidal tracts), and infantile polycystic kidneys; there was fatty liver in one case and hepatic fibrosis in the other. The clinicopathological findings of our two patients were entirely compatible with those of patients previously reported by Arima and other Japanese authors. Therefore, these patients seem to comprise a distinct clinicopathological entity, cerebro-oculo-hepato-renal syndrome (Arima's syndrome), different from other syndromes with retinal, cerebellar, and renal abnormalities.
 ...
PMID:Cerebro-oculo-hepato-renal syndrome (Arima' syndrome): a distinct clinicopathological entity. 359 33

We evaluated amount and composition of amino acids in supplementation of hyperalimentation from the standpoint of whether it may improve nutrition and/or reduce the indexes of uremia such as BUN. Rats with established uremia, by 5/6 nephrectomy, were treated with various isocaloric solutions containing different amount of essential amino acids and histidine (EAA) or standard amino acids (SAA) which were formulated to provide Cal/N ratios of 300, 600, and 900. The BUN was lower and the nutritional index was better in rats infused with EAA compared with those administrated SAA, while severe distortion of plasma amino acid concentration, hyperammonemia, and fatty liver were observed at the Cal/N 300 condition. Rats infused with SAA gained positive nitrogen balance at the condition of Cal/N 300; however, plasma amino acid distortion was still observed. These results indicate that administration of EAA alone for treatment of renal failure needs high-calorie and low-nitrogen conditions such as Cal/N 600 for avoiding complications. Administration of standard amino acid solution is safe and nutritionally effective in the Cal/N 300 condition, but there are a few problems concerning nitrogen availability and plasma amino acid pattern.
 ...
PMID:Amino acid supplementation to hyperalimentation in uremic rats: effects of amount and composition of amino acids on nutrition and uremia. 804 60