Therapeutic Benefit of Blood Transfusion in a Patient With Novel PGK1 Mutation (c.461T>C [p.L154P]).

Abstract

Phosphoglycerate kinase (PGK) is glycolytic enzyme critical in the creation of adenosine triphosphate. Mutations in the gene for this enzyme, PGK1, are associated with PGK deficiency, which is characterized by neurologic symptoms, nonhereditary spherocytic hemolytic anemia, and myopathy. We present a 20-year-old male with a novel c.461T>C (p.L154P) PGK1 mutation and clinical disease complicated by anemia and neurological symptoms. There is no recommended treatment for PGK deficiency. Because of our patient's advanced disease progression, we initiated serial blood transfusions and report significant subjective improvement in the patient's physical condition before his passing from PGK deficiency-related complications.

• Authors: Scott K Ward, Cathy A Stevens, Jennifer Keates-Baleeiro, Manoo Bhakta
• Journal: Journal of pediatric hematology/oncology (J Pediatr Hematol Oncol) Vol. 42 Issue 4 Pg. e228-e230 (05 2020) ISSN: 1536-3678 [Electronic] United States
• PMID: 30951021 (Publication Type: Journal Article)

Chemical References

• PGK1 protein, human
• Phosphoglycerate Kinase

Topics

• Adult
• Blood Transfusion
• Genetic Diseases, X-Linked (genetics, therapy)
• Humans
• Male
• Metabolism, Inborn Errors (genetics, therapy)
• Phosphoglycerate Kinase (deficiency, genetics)
• Point Mutation