Hexokinase deficiency

Hexokinase deficiency
Classification and external resources
Specialty	hematology
ICD-10	D55.2
ICD-9-CM	282.3
OMIM	235700

Hexokinase deficiency is an anemia-causing condition associated with inadequate hexokinase.^[1]^[2] Specifically, the HK1 isozyme is involved.^[3]

References

↑ "DISORDERS OF RED CELLS". Retrieved 2009-02-07.
↑ Paglia DE, Shende A, Lanzkowsky P, Valentine WN (1981). "Hexokinase "New Hyde Park": a low activity erythrocyte isozyme in a Chinese kindred". Am. J. Hematol. 10 (2): 107–17. doi:10.1002/ajh.2830100202. PMID 7234862.
↑ Online Mendelian Inheritance in Man (OMIM) 235700

Diseases of red blood cells (D50–69,74, 280–287)

↑

Polycythemia	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-)

Blood tests

MCV
MCHC
- Normochromic
- Hypochromic

Other

Inborn error of carbohydrate metabolism: monosaccharide metabolism disorders (including glycogen storage diseases) (E73–E74, 271)

Sucrose, transport
(extracellular)

Disaccharide catabolism	Congenital alactasia 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

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

Other

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Hexokinase deficiency

See also

References