6-phosphogluconate Dehydrogenase Deficiency

6-Phosphogluconate dehydrogenase deficiency is a hereditary disease characterised by abnormally low levels of the 6-phosphogluconate dehydrogenase enzyme (abbreviated 6PGD). It is a metabolic enzyme involved in the pentose phosphate pathway, especially important in red blood cell metabolism.

Pathology: hematology, hematologic diseases of RBCs and megakaryocytes / MEP (D50-69,74, 280-287)
Red
blood cells
↑
Poly-
cythemia
  • Polycythemia vera
↓
Anemia
Nutritional
  • Micro-: Iron deficiency anemia
    • Plummer-Vinson syndrome
  • Macro-: Megaloblastic anemia
    • Pernicious anemia
Hemolytic
(mostly Normo-)
Hereditary
  • enzymopathy: G6PD
  • glycolysis
    • PK
    • TI
    • HK
  • hemoglobinopathy: Thalassemia
    • alpha
    • beta
    • delta
  • Sickle-cell disease/trait
  • HPFH
  • membrane: Hereditary spherocytosis
    • Minkowski-Chauffard syndrome
  • Hereditary elliptocytosis
    • Southeast Asian ovalocytosis
  • Hereditary stomatocytosis
Acquired
  • Autoimmune
    • WAHA
    • CAD
    • PCH
  • membrane
    • PNH
  • MAHA
  • TM
    • HUS
  • Drug-induced autoimmune
  • Drug-induced nonautoimmune
  • Hemolytic disease of the newborn
Aplastic
(mostly Normo-)
  • Hereditary: Fanconi anemia
  • Diamond–Blackfan anemia
  • Acquired: PRCA
  • Sideroblastic anemia
  • Myelophthisic
Blood tests
  • MCV
    • Normocytic
    • Microcytic
    • Macrocytic
  • MCHC
    • Normochromic
    • Hypochromic
Other
  • Methemoglobinemia
  • Sulfhemoglobinemia
  • Reticulocytopenia
Coagulation/
coagulopathy
↑
Hyper-
coagulability
  • primary: Antithrombin III deficiency
  • Protein C deficiency/Activated protein C resistance/Protein S deficiency/Factor V Leiden
  • Prothrombin G20210A
  • acquired:Thrombocytosis
    • essential
  • DIC
    • Congenital afibrinogenemia
    • Purpura fulminans
  • autoimmune
    • Antiphospholipid
↓
Hypo-
coagulability
Thrombocytopenia
  • Thrombocytopenic purpura: ITP
    • Evans syndrome
  • TM
    • TTP
  • Heparin-induced thrombocytopenia
  • May-Hegglin anomaly
Platelet function
  • adhesion
    • Bernard–Soulier syndrome
  • aggregation
    • Glanzmann's thrombasthenia
  • platelet storage pool deficiency
    • Hermansky–Pudlak syndrome
    • Gray platelet syndrome
Clotting factor
  • Hemophilia
    • A/VIII
    • B/IX
    • C/XI
  • von Willebrand disease
  • Hypoprothrombinemia/II
  • XIII
  • Dysfibrinogenemia

M: MYL

cell/phys (coag, heme, immu, gran), csfs

rbmg/mogr/tumr/hist, sysi/epon, btst

drug (B1/2/3+5+6), btst, trns
Inborn error of carbohydrate metabolism: monosaccharide metabolism disorders (including glycogen storage diseases) (E73–E74, 271)
Sucrose, transport
(extracellular)
Disaccharide catabolism Lactose intolerance · Sucrose intolerance
Monosaccharide transport Glucose-galactose malabsorption · Inborn errors of renal tubular transport (Renal glycosuria) · Fructose malabsorption
Hexose → glucose
Monosaccharide catabolism fructose: Essential fructosuria · Fructose intolerance galactose/galactosemia : GALK deficiency · GALT deficiency/GALE deficiency
Glucose ⇄ glycogen
Glycogenesis GSD type 0, glycogen synthase · GSD type IV, Andersen's, branching
Glycogenolysis extralysosomal: GSD type V, McArdle, muscle glycogen phosphorylase/GSD type VI, Hers', liver glycogen phosphorylase · GSD type III, Cori's, debranching lysosomal/LSD: GSD type II, Pompe's, glucosidase
Glucose ⇄ CAC
Glycolysis MODY 2/HHF3 · GSD type VII, Tarui's, phosphofructokinase · Triosephosphate isomerase deficiency · Pyruvate kinase deficiency
Gluconeogenesis PCD · Fructose bisphosphatase deficiency · GSD type I, von Gierke, glucose 6-phosphatase
Pentose phosphate pathway Glucose-6-phosphate dehydrogenase deficiency · Transaldolase deficiency
Other Hyperoxaluria (Primary hyperoxaluria) · Pentosuria

M: MET

mt, k, c/g/r/p/y/i, f/h/s/l/o/e, a/u, n, m

k, cgrp/y/i, f/h/s/l/o/e, au, n, m, epon

m (A16/C10), i (k, c/g/r/p/y/i, f/h/s/o/e, a/u, n, m)


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