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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]
The HK1 gene spans approximately 131 kb and consists of 25 exons. Alternative splicing of its 5’ exons produces different transcripts in different cell types: exons 1-5 and exon 8 (exons T1-6) are testis-specific exons; exon 6, located approximately 15 kb downstream of the testis-specific exons, is the erythroid-specific exon (exon R); and exon 7, located approximately 2.85 kb downstream of ...
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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.
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2,4 Dienoyl-CoA reductase, but also lysine degradation are performed by NADP-dependent oxidoreductases explaining how NADK2 deficiency can lead to multiple enzyme defects. [2] 2,4-Dienoyl-CoA reductase deficiency was initially described in 1990 based on a single case of a black female who presented with persistent hypotonia.