Identification of a novel variant in phosphoglycerate kinase-1 (PGK1) in an African-American child (PGK1 Detroit)

Ahmar U. Zaidi, Shruti Bagla, Yaddanapudi Ravindranath

Research output: Contribution to journalArticlepeer-review

1 Scopus citations

Abstract

The human phosphoglycerate kinase-1 enzyme is the first of two energy generating steps in the glycolysis. Since its discovery in 1968, many pathologically mutated forms of PGK1 have been described. PGK1 is expressed in all tissues. The clinical manifestations of PGK1 deficiency are some combination of anemia, central nervous system and/or musculoskeletal manifestations. We describe a case of PGK1 in an African-American child, which to our knowledge, has never been described to date. The manifestations of PGK1-Detroit (c.1105A > C (p.Thr369Pro)) include hematologic and central nervous manifestations.

Original languageEnglish
Pages (from-to)302-308
Number of pages7
JournalPediatric Hematology and Oncology
Volume36
Issue number5
DOIs
StatePublished - Jul 4 2019
Externally publishedYes

Keywords

  • Red blood cells
  • anemia
  • metabolism

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