PubMed Health⌕ Search
Home/Archive/PubMed

PubMed · 2215454

Peroxisomal disorders.

S Naidu·H W Moser
View original source ↗Export metadata ↓

Abstract

Although peroxisomes were once considered a vestige, their importance in cellular metabolism is clearly established by the many inherited diseases that have been described in the past two decades. Unfortunately there is no definitive treatment for the various disorders, but based on the recognition of the biochemical abnormalities, prenatal testing and appropriate genetic counseling can be provided. It is essential for clinicians to be aware of this group of diseases, as diagnosis and further study of these patients are essential in understanding the basic etiologic mechanisms underlying these complex groups of disorders. Clearly, there is much to be learned about the relationship between biochemical abnormalities and the phenotypic variability of the peroxisomal disorders.

Explore related subjects

Brain Diseases, MetabolicChildChild, PreschoolEnzymesHumansInfantInfant, NewbornMetabolism, Inborn ErrorsMicrobodiesNeuromuscular DiseasesSyndromeJournal ArticleReview

Keep this discovery

Explore connections, maps & timelines

BibTeXRIS

S Naidu, H W Moser. 1990. Peroxisomal disorders.. https://pubmed.ncbi.nlm.nih.gov/2215454/

Cite the original work for its findings. Save a collection to share your selection of sources.

KEEP EXPLORING

Related citations

PubMed2006

A magnetic resonance approach to metabolic disorders in childhood.

INTRODUCTION: Inborn errors of metabolism are a difficult group of disorders to diagnose. Clinical signs and symptoms overlap among the different diseases, biochemical tests are often nonspecific or unrevealing, and genetic analyses are time consuming, expensive, and often not commercially available. Imaging can aid in diagnosing some disorders, but the imaging findings of many disorders seem to overlap, particularly as more and more disorders are identified and described. DEVELOPMENT: Several groups have proposed an imaging approach based upon pattern recognition on magnetic resonance imaging, supplemented by metabolic data from proton magnetic resonance spectroscopy and microstructural data, as assessed by diffusion weighted imaging. CONCLUSION: When properly used, this pattern recognition approach in conjunction with the other imaging tools can be very useful for separating the complex group of metabolic disorders into more manageable groups. Indeed, sometimes this approach allows a specific diagnosis to be made.

Brain Diseases, Metabolic↗
PubMed2006

Stable neuropsychological deficits in adult polyglucosan body disease.

We describe a 61-year-old woman who gradually developed deficits of balance, gait, and the ability to negotiate movement in space, together with an unusual pattern of cognitive deficits. A series of non-invasive investigations over three years including EEG, CT, MRI, PET and serial neuropsychological review had not provided a diagnosis. Significantly, the four neuropsychological assessments had revealed no progressive decline in cognition. Brain biopsy revealed an abundance of corpora amylacea, and a diagnosis of adult polyglucosan body disease (APBD) was made. This case contributes to the body of knowledge about the cognitive manifestations of this rare disease, and the stability of its functional impact over time.

Brain Diseases, Metabolic↗