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: EC:5.4.2.8 (
phosphomannomutase
)
238
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Type I carbohydrate-deficient glycoprotein (CDG) syndrome is a genetic multisystem disorder generally without overt renal problems. We report a neonate with neurological abnormalities and congenital
nephrotic syndrome
of diffuse mesangial sclerosis type. Serum transferrin isoelectric focusing showed the typical abnormalities of type I CDG syndrome. Normal transferrin focusing findings in other patients with similar renal problems excluded the possibility of a secondary biochemical phenomenon. The diagnosis of type I CDG syndrome was confirmed by demonstration of a deficiency of
phosphomannomutase
. No evidence of pontocerebellar atrophy was found in imaging or at autopsy. We conclude that congenital
nephrotic syndrome
may occur in type I CDG syndrome, and that this diagnosis should be considered in patients with congenital
nephrotic syndrome
. Absence of pontocerebellar atrophy does not exclude the diagnosis of type I CDG syndrome.
...
PMID:Congenital nephrotic syndrome: a novel phenotype of type I carbohydrate-deficient glycoprotein syndrome. 898 53
