Metaphyseal enchondrodysplasia with 2-hydroxy-glutaric aciduria: observation of a third case and further delineation

Details

Serval ID
serval:BIB_21D27D9D1BAF
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Institution
Title
Metaphyseal enchondrodysplasia with 2-hydroxy-glutaric aciduria: observation of a third case and further delineation
Journal
Clinical Dysmorphology
Author(s)
Bayar  A., Acun  C., Dursun  A., Verhoeven  N., Bonafe  L., Keser  S., Superti-Furga  A.
ISSN
0962-8827
Publication state
Published
Issued date
01/2005
Peer-reviewed
Oui
Volume
14
Number
1
Pages
7-11
Notes
Case Reports
Journal Article
Research Support, Non-U.S. Gov't --- Old month value: Jan
Abstract
In the course of evaluating a 17 months old boy with waddling gait and swollen joints, we found generalized, severe ossification defects in the metaphyses of his long bones. The differential diagnosis included nutritional or genetic rickets, metaphyseal dysplasia, and enchondrodysplasia. Calcium, phosphate and alkaline phosphatase were normal, while targeted analysis of urinary organic acids repeatedly revealed excretion of 2-hydroxy-glutaric acid. Thus, this child appears to have an unusual combination of findings described in just two other patients so far, a girl and a boy, and called 'spondyloenchondrodysplasia with D-2-hydroxy-glutaric aciduria'. These three cases are similar in terms of severe metaphyseal lesions, mild vertebral involvement, and presence of 2-hydroxy-glutaric acid in the urine. We consider this a radiographically and biochemically distinct entity, for which we suggest the name of 'metaphyseal enchondrodysplasia with 2-hydroxy-glutaric aciduria'.
Keywords
Glutarates/*urine Humans Infant Male Osteochondrodysplasias/*physiopathology Walking
Pubmed
Web of science
Create date
21/01/2008 12:50
Last modification date
20/08/2019 12:58
Usage data