Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0023890 (cirrhosis)
 42,195 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Serum pipecolic acid was measured in patients with neonatal adrenoleukodystrophy (NALD), sex-linked ALD, and the cerebrohepatorenal syndrome of Zellweger. Pipecolic acid was elevated, often markedly, in most of the patients with NALD but in none of those with X-linked ALD or adrenomyeloneuropathy, or in normal adults and children, or children with cirrhosis or other neurodegenerative disorders. The demonstration of elevated serum pipecolic acid in NALD adds to the previously recognized elevation of very-long-chain fatty acids (another Zellweger syndrome sign) and suggests that generalized peroxisomal dysfunction may be a characteristic of NALD as it appears to be of Zellweger syndrome, which diseases share some clinical characteristics. The nosologic significance of these findings is discussed.
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PMID:Hyperpipecolic acidemia in neonatal adrenoleukodystrophy. 651 2

Pipecolic acid is a cyclic secondary imino acid produced in the metabolism of lysine. The metabolic role and fate of pipecolic acid in the human central nervous system are largely unknown. The biochemical defect in two brothers, both less than two years of age, with minor dysmorphic features, progressive neurological dysfunction, and hepatomegaly was identified as hyperpipecolatemia. At autopsy, the older brother's brain weight was increased, with bilateral pallor of the putamen. Distinctive changes included accumulation of 1-1.5 micrometer periodic acid-Schiff (PAS) positive, diastase-resistant, Alcian blue-negative, non-lipid, non-fluorescent granules in astrocytes, satellite cells, and perivascular foot processes. Both light and electron microscopy showed total absence of these granules in neurons. In the older sibling, the liver showed micronodular cirrhosis with distinctive intrahepatocytic accumulation of 0.2-1 micrometer membrane-bound material of low electron density. Pericellular fibrosis and similar cytoplasmic inclusions were present in the liver biopsy from his brother. The distinctive astrocytic storage phenomenon and the liver changes are compared to the findings in Zellweger's syndrome and lysinuric protein intolerance, which are also associated with altered pipecolate metabolism.
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PMID:Pathologic alterations in the brain and liver in hyperpipecolic acidemia. 663 55

gamma-Aminobutyric acid (GABA) is an inhibitory neurotransmitter, elevated in plasma of patients with liver cirrhosis. Pipecolic acid (PA), a metabolite of lysine, and known to be a GABA receptor agonist, is also seen high levels in the plasma. To clarify the relationship of GABA, PA and liver function, plasma GABA and PA in three groups of chronic liver diseases (compensated cirrhosis, decompensated cirrhosis and decompensated cirrhosis with hepatic encephalopathy, HE) were analyzed and their liver functions were compared. This analysis demonstrated that both plasma GABA and PA were higher in these patients than in normal subjects. Plasma PA, but not plasma GABA, was closely correlated with plasma ammonia concentration in each group. No correlation was noted between plasma GABA and PA in each group. Plasma pipecolic acid was significantly higher in patients with esophageal varices than in patients with no varices. These findings suggest that increased PA may reflect the degree of portal hypertension. Although both GABA and PA are increased in chronic liver disease, they may have a different origin and disappearance rate including metabolic mechanism.
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PMID:Comparative study on the correlation of plasma gamma-aminobutyric acid and pipecolic acid with liver function in patients with liver cirrhosis. 1093 64