Individuals with PGK deficiency tend to fall into two groups: those that have a predominantly hemolytic form and those that have a predominantly myopathic form. Varying degrees of intellectual disability and other neurological symptoms can be seen in both forms. The clinical phenotype is usually similar in affected individuals in the same family. Female carriers of PGK deficiency may show chronic, mild hemolytic anemia.
Mutations in the PGK1 gene (Xq13) cause PGK deficiency. Most families have unique mutations. The PGK1 gene encodes the phosphoglycerate kinase-1 protein, which catalyzes the reversible conversion of 1,3-diphosphoglycerate to 3-phosphoglycerate during glycolysis, generating one molecule of ATP.
For patients with suspected PGK deficiency, sequence analysis is recommended as the first step in mutation identification. For patients in whom mutations are not identified by full gene sequencing, deletion/duplication analysis is appropriate.
- OMIM #300653: Phosphoglycerate Kinase 1 Deficiency
- Beutler, E. PGK Deficiency. British Journal of Haematology 2006; 136:3-11.
- Confirmation of a clinical diagnosis of PGK deficiency in an individual in whom sequence analysis was negative.
- Carrier testing in adult females with a family history of PGK deficiency in whom sequence analysis was negative.
Please note that a "backbone" of probes across the entire genome are included on the array for analytical and quality control purposes. Rarely, off-target copy number variants causative of disease may be identified that may or may not be related to the patient's phenotype. Only known pathogenic off-target copy number variants will be reported. Off-target copy number variants of unknown clinical significance will not be reported.
Submit only 1 of the following specimen types
Preferred specimen type: Whole Blood
Type: Whole Blood
Specimen Requirements:In EDTA (purple top) tube:
Infants (<2 years): 2-3 ml
Children (>2 years): 3-5 ml
Older Children & Adults: 5-10 ml
Specimen Collection and Shipping: Refrigerate until time of shipment. Ship sample within 5 days of collection at room temperature with overnight delivery.
Specimen Requirements:OrageneTM Saliva Collection kit (available through EGL) used according to manufacturer instructions.
Specimen Collection and Shipping: Store sample at room temperature. Ship sample within 5 days of collection at room temperature with overnight delivery.
Sequence analysis is required before deletion/duplication analysis by targeted CGH array. If sequencing is performed outside of EGL Genetics, please submit a copy of the sequencing report with the test requisition.
- Sequence analysis of the PGK1 gene is available and is required before deletion/duplication analysis.
- A next generation sequence analysis panel of 90+ XLID genes is available.
- A CGH array-based test for deletion/duplication analysis of 90+ XLID genes is available.
- Custom diagnostic mutation analysis (KM) is available to family members if mutations are identified by targeted mutation testing or sequencing analysis.
- Prenatal testing is available only for known familial mutations to individuals who are confirmed carriers of mutations. Please contact the laboratory genetic counselor to discuss appropriate testing prior to collecting a prenatal specimen.