Glykogen Storage Disease, type 1, van Gierke (main mutations)

Metabolism

01.014

Glykogen Storage Disease, type 1, van Gierke (main mutations)

GSD

Signs/symptoms:	Hypoglycemia, hepatomegaly
Complications:	Glucose-6-phosphatase deficiency
Early diagnosis/treatment:	Yes

An autosomal recessive disease in which gene expression of glucose-6-phosphatase is absent, resulting in hypoglycemia due to lack of glucose production. Accumulation of glycogen in liver and kidney leads to organomegaly, particularly massive hepatomegaly. Increased concentrations of lactic acid and hyperlipidemia appear in the plasma.

Material required:
Blood tubes:	EDTA whole blood (do not freeze, do not centrifugate)
Mouth brush:	No

Chromosomal localization:

17q21

OMIM number:

232200

Glucose-6-phosphatase (main mutations)

G6PT

Gene regions tested:
Gene regions:
Amino acid positions:	D38V, W77R, R83C, E110K, A124T, V166G, G184E, G188R
Nucleotide positions:	ins 2bp nt459
Test methods:	Sequencing

Prices:

Switzerland:

8820.00

8811.01

8819.01

8810.18

	TP REVAL:	1500	TP Value:	0.9	CHF	1350.00
Other europe:	EUR					900.00
Other regions:	USD					call

References:

Wierzbicki AS, Watt GF, Lynas J, Winder AF, Wray R. Very low-density lipoprotein apolipoprotein B-100 turnover in glycogen storage disease type Ia (von Gierke disease). J Inherit Metab Dis. 2001;24:527-534.

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Glykogen Storage Disease, type 1, van Gierke (main mutations)