Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0013421 (
dystonia
)
8,418
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
We describe a male patient with glutaric aciduria type I which had already presented during the neonatal period with therapy-resistant seizures. In the course of the disease, he also developed choreoathetosis and
dystonia
. The disease was associated with
nephrotic syndrome
. Renal histology showed signs of a glomerular disorder with shrinking of glomerular tufts, increase in mesangial matrix, proliferation of extracapillary epithelial cells and formation of larger epithelial crescents. The child died at 22 weeks of age due to end-stage renal failure. This report illustrates an unusual and early clinical manifestation of glutaric aciduria type I and a hitherto unknown association with
nephrotic syndrome
in early childhood.
...
PMID:Early clinical manifestation of glutaric aciduria type I and nephrotic syndrome during the first months of life. 935 Sep 3
