Disorders

Glycogen Storage Disease Type XIV

Synonym(s): GSD XIV, Phosphoglucomutase 1 Deficiency

Gene	Locus	Protein
PGM1	1p22.1	Phosphoglucomutase-1

Laboratory	Test Method	Prenatal	Carrier *
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA
Universidad Autonoma de Madrid, Centro de Diagnostico de Enfermedades Moleculares - Madrid, Spain

^* Carrier column is relevant to autosomal recessive and X-linked inheritance; column will be blank when it is not relevant (e.g. autosomal dominant inheritance, microdeletions/duplications) and/or is not offered by the lab.