TY - JOUR
T1 - Identification of a novel variant in phosphoglycerate kinase-1 (PGK1) in an African-American child (PGK1 Detroit)
AU - Zaidi, Ahmar U.
AU - Bagla, Shruti
AU - Ravindranath, Yaddanapudi
N1 - Publisher Copyright:
© 2019, © 2019 Taylor & Francis Group, LLC.
PY - 2019/7/4
Y1 - 2019/7/4
N2 - 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.
AB - 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.
KW - Red blood cells
KW - anemia
KW - metabolism
UR - http://www.scopus.com/inward/record.url?scp=85071047909&partnerID=8YFLogxK
U2 - 10.1080/08880018.2019.1639863
DO - 10.1080/08880018.2019.1639863
M3 - Article
C2 - 31424298
AN - SCOPUS:85071047909
VL - 36
SP - 302
EP - 308
JO - Pediatric Hematology and Oncology
JF - Pediatric Hematology and Oncology
SN - 0888-0018
IS - 5
ER -