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: UNIPROT:P01275 (
glucagon
)
26,492
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Carbohydrate metabolism was studied in a child with atypical glycogen storage disease and Fanconi syndrome. Massive glucosuria, partial resistance to
glucagon
and abnormal responses to carbohydrate loads, mainly in the form of major impairment of galactose utilization were found, as reported in previous cases. Increased blood lactate to pyruvate ratios, observed in a few cases of idiopathic Fanconi syndrome, were not present. [1-14C]Galactose oxidation was normal in erythrocytes, but reduced in fresh minced liver tissue, despite normal activities of hepatic galactokinase,
uridyltransferase
, and UDP-glucose 4-epimerase in homogenates of frozen liver. These data suggest a defect in hepatic galactose metabolism not so far identified.
...
PMID:Defective galactose oxidation in a patient with glycogen storage disease and Fanconi syndrome. 657 55
