Search results
Results From The WOW.Com Content Network
Hexokinase deficiency is an extremely rare autosomal recessive condition that falls under the category of erythroenzymopathies, or defects in red cell enzymes. [2] Hexokinase deficiency manifests is associated with chronic nonspherocytic hemolytic anemia. [3] Hemolytic anemia seems to be the only clinical sign of hexokinase deficiency. [4]
Hexokinase I, also known as hexokinase A and HK1, is an enzyme that in humans is encoded by the HK1 gene on chromosome 10. Hexokinases phosphorylate glucose to produce glucose-6-phosphate (G6P), the first step in most glucose metabolism pathways. This gene encodes a ubiquitous form of hexokinase which localizes to the outer membrane of ...
80201 216019 Ensembl ENSG00000156510 ENSMUSG00000020080 UniProt Q2TB90 Q91W97 RefSeq (mRNA) NM_025130 NM_145419 RefSeq (protein) NP_079406 NP_663394 Location (UCSC) Chr 10: 69.22 – 69.27 Mb Chr 10: 62.22 – 62.26 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Hexokinase domain containing 1 (HKDC1) is an enzyme which in humans is encoded by the HKDC1 gene on chromosome 10. It is a ...
Equine polysaccharide storage myopathy (EPSM, PSSM, EPSSM) is a hereditary glycogen storage disease of horses that causes exertional rhabdomyolysis.It is currently known to affect the following breeds American Quarter Horses, American Paint Horses, Warmbloods, Cobs, Dales Ponies, Thoroughbreds, Arabians, New Forest ponies, and a large number of Heavy horse breeds.
The Henneke horse body condition scoring system is a numerical scale used to evaluate the amount of fat on a horse's body. It was developed in the early 1980s by Don Henneke at Texas A&M University with the goal of creating a universal scale to assess horses' bodyweight, [ 1 ] and was first published in 1983. [ 2 ]
However, any horse that can store excess amounts of glycogen, usually genetic, can develop this form of ER. [1] Recurrent Exertional Rhabdomyolysis (RER) is commonly found in breeds that are high strung such as Arabians and thoroughbreds. However, any horse can develop this type of ER if it displays abnormal muscle contractions. [1]
The specificity of progesterone as a marker of 21-hydroxylase deficiency, as opposed to deficiency of other enzymes involved in steroid pathways, is still not well studied. [ 184 ] [ 185 ] [ 186 ] Cortisol is one of the two main final products of 21-hydroxylase, and the deficiency of this enzyme may lead to a certain degree of cortisol deficiency.
Glycogen-branching enzyme deficiency (GBED) is an inheritable glycogen storage disease affecting American Quarter Horses and American Paint Horses. It leads to abortion, stillbirths, or early death of affected animals. The human form of the disease is known as glycogen storage disease type IV.