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6-phosphogluconate dehydrogenase deficiency(PGDD)

MedGen UID:
1783871
•Concept ID:
C5543091
•
Disease or Syndrome
Synonyms: 6PGD DEFICIENCY; PGDD
 
Monarch Initiative: MONDO:0020457
OMIM®: 619199
Orphanet: ORPHA99135

Definition

A rare constitutional hemolytic anemia characterized by a low 6-phosphogluconate dehydrogenase activity in the erythrocytes, which clinically manifests with a well-compensated chronic nonspherocytic hemolytic anemia and transient hemolytic periods with jaundice. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGV6-phosphogluconate dehydrogenase deficiency

Professional guidelines

PubMed

Clinical utility of fractionating erythrocytes into "Percoll" density gradients.
Mosca A, Paleari R, Modenese A, Rossini S, Parma R, Rocco C, Russo V, Caramenti G, Paderi ML, Galanello R
Adv Exp Med Biol 1991;307:227-38. doi: 10.1007/978-1-4684-5985-2_21. PMID: 1666816

Recent clinical studies

Etiology

A NEW INHERITED ENZYMATIC DEFICIENCY OF HUMAN ERYTHROCYTES: 6-PHOSPHOGLUCONATE DEHYDROGENASE DEFICIENCY.
BREWER GJ, DERN RJ
Am J Hum Genet 1964 Dec;16(4):472-6. PMID: 14250427Free PMC Article

Clinical prediction guides

6-Phosphogluconate dehydrogenase deficiency in an Italian family.
Caprari P, Caforio MP, Cianciulli P, Maffi D, Pasquino MT, Tarzia A, Amadori S, Salvati AM
Ann Hematol 2001 Jan;80(1):41-4. doi: 10.1007/s002770000233. PMID: 11233775

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