Linked Life Data

3140473

Source:http://linkedlifedata.com/resource/pubmed/id/3140473

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
1988-11-8
pubmed:abstractText
Peroxisomes were visualized by cytochemical staining for catalase or/and electron microscopy in liver biopsies of two boys with childhood adrenoleukodystrophy (ALD), and of two girls with autopsy confirmed neonatal adrenoleukodystrophy (NALD). In a third patient previously described as NALD, unusual organelles were seen which may be large abnormal microbodies. Enlarged peroxisomes (determined by morphometry) were also present in the livers of the other two NALD patients. In the ALD patient whose clinical disease was more severe, peroxisomes were larger than in the older ALD case. Catalase staining was diminished and markedly heterogeneous. Additional unusual features such as a separate population of tubular forms, contact with fat droplets, of tubular forms, contact with fat droplets, marginal plate and invaginations containing glycogen were seen in the neonatal cases. These data are compared to the enlarged or elongated peroxisomes and heterogeneous staining in the thiolase-deficient "pseudo-Zellweger" patient (Goldfischer et al. 1986) and in 2 siblings with acylCoA oxidase deficiency (Poll-Thé et al. 1986, 1988). Enlarged peroxisomes are a common feature in this group of patients with peroxisomal deficiency disorders, suggesting that increased size and lowered metabolic capacity are associated. Nevertheless a marked morphopathological heterogeneity of peroxisomes thus exists in syndromes described as NALD including previously published cases. Most likely this heterogeneity reflects different enzymatic deficiencies, as confirmed by the biochemical data available. Clinically similar syndromes cover divergent microscopical and enzymatic peroxisomal patterns, and naming of the disease should be adapted to reflect such data. Cytochemical studies are urged in every suspected patient.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
0174-7398
pubmed:author
pubmed:issnType
Print
pubmed:volume
413
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
275-85
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1988
pubmed:articleTitle
Hepatic peroxisomes in adrenoleukodystrophy and related syndromes: cytochemical and morphometric data.
pubmed:affiliation
Menselijke Anatomie, Vrije Universiteit, Brussels, Belgium.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't