Linked Life Data

1861460

Source:http://linkedlifedata.com/resource/pubmed/id/1861460

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
1991-9-3
pubmed:abstractText
An adult patient with hereditary tyrosinaemia type I who developed renal failure is reported. She received a renal transplant at the age of 23 years. In childhood her kidney disease was dominated by multiple tubular defects with resulting hypophosphataemic rickets. Metabolic acidosis was the most prominent feature in the years preceding the transplantation. Her kidneys were contracted to 40 g. The major morphological finding was that of a tubulointerstitial nephropathy. Liver biopsies taken at the ages of 5.5 and 23 years showed cirrhotic changes. Crystalloid inclusions in the liver mitochondriae were a prominent finding on electron microscopy. Fumarylacetoacetase was deficient in liver, kidneys, fibroblasts and lymphocytes. The typical biochemical parameters of tyrosinaemia, succinylacetone, p-hydroxyphenyllactate, p-hydroxyphenylpyruvate and serum tyrosine were only slightly elevated. A brief history of a second adult tyrosinaemia patient with decreasing renal function is also given.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
0141-8955
pubmed:author
pubmed:issnType
Print
pubmed:volume
14
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
53-62
pubmed:dateRevised
2007-3-21
pubmed:meshHeading
pubmed:year
1991
pubmed:articleTitle
Renal failure in adult patients with hereditary tyrosinaemia type I.
pubmed:affiliation
Institute of Clinical Biochemistry, Rikshospitalet, Oslo, Norway.
pubmed:publicationType
Journal Article, Case Reports