Diagnostics of hereditary diseases in fructose and glycogen metabolism

Disease

Methods

Hereditary fructose intolerance

Mutation screening, enzyme activity determination

Fructose-1,6-bisphosphatase-deficiency

Mutation screening, enzyme activity determination

Glycogen synthase deficiency
(GSD Type 0)
Mutation screening 

 Glucose-6-phosphatase deficiency
(GSD Type Ia; M. von Gierke)

Mutation screening, enzyme activity determination

Glucose-6-phosphate-translocase deficiency
(GSD Type Ib)
Mutation screening, enzyme activity determination
Alpha-Glucosidase deficiency
(GSD Type II; M. Pompe)

Mutation screening, enzyme activity determination

Amylo-1,6-glucosidase deficiency
(GSD Type III)
Enzyme activity determination
Amylo-1,4;1,6-trans-glucosidase deficiency (GSD Type IV) Enzyme activity determination
Muscle phosphorylase deficiency
(GSD Type V)
Mutation screening, enzyme activity determination
Liver phosphorylase deficiency
(GSD Type VI)
Enzyme activity determination
Muscle phosphofruktokinase deficiency
(GSD Type VII)
Enzyme activity determination
Phosphorylase-b-kinase deficiency
(GSD Type IX)
Enzyme activity determination


This diagnostics can only be ordered by physicians.
The diagnostics can not be performed on the order of patients.
Before placing an order the physician must contact Prof. Dr. K. Eschrich.

Patients with interest in the diagnostics described above are advised to contact their physician.

Medical consulting service for patients by Prof. Eschrich is legally prohibited.
 
Contact:
Klaus Eschrich, Ph.D.
email:   eschrich@uni-leipzig.de
Phone: +49 (0)341 97 22 105
Fax:    +49 (0)341 97 28168 / (0)341 97 22 109

Patient support groups:
"Hereditäre Fructoseintoleranz"    http://www.fructoseintoleranz.de/
"Glykogenose Deutschland e.V."  http://www.glykogenose.de/

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