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Qu'est-ce (qui) est 5α-Reductase 2 deficiency - définition
5α-Reductase 2 deficiency
MEDICAL CONDITION
5-alpha-reductase deficency; 5 alpha reductase deficiency; Pseudovaginal perineoscrotal hypospadias; 5-Alpha-reductase deficiency; 5 alpha reductase 2 deficiency; 5-alpha reductase deficiency; 5-alpha Reductase Deficiency; 5-ards; Maria mario syndrome; Maria-mario syndrome; Mario maria syndrome; Mario-maria syndrome; 5ARD; 5-ARD; 5α-reductase deficiency; 5α-reductase type 2 deficiency; 5α-reductase type II deficiency; 5α-Reductase type II deficiency; Congenital 5α-reductase deficiency; 5-alpha-reductase deficiency; 5α-Reductase deficiency; Congenital 5α-reductase type 2 deficiency; 5α-Reductase type 2 deficiency
5α-Reductase 2 deficiency (5αR2D) is an autosomal recessive condition caused by a mutation in SRD5A2, a gene encoding the enzyme 5α-reductase type 2 (5αR2). The condition is rare, affects only genetic males, and has a broad spectrum of presentations, most apparent in the genitalia where a male is born with an underdeveloped penis that might develop to various extents in puberty and hence be raised as female up to a certain age.
SRD5A2
PROTEIN-CODING GENE IN THE SPECIES HOMO SAPIENS
5α reductase type II; 5α Reductase type II; 5α-Reductase type II; 5α-reductase type II; 5α-reductase II; 5α-Reductase II; 5α Reductase II; 5α reductase II; 5α reductase type 2; 5α Reductase type 2; 5α-Reductase type 2; 5α Reductase 2; 5α reductase 2; 5α-reductase 2; 5α-Reductase 2; SRD5A2 (gene)
The human gene SRD5A2 encodes the 3-oxo-5α-steroid 4-dehydrogenase 2 enzyme, also known as 5α-reductase type 2 (5αR2), one of three isozymes of 5α-reductase.
2,4 Dienoyl-CoA reductase deficiency
MEDICAL CONDITION
Dienoyl-CoA reductase deficiency; 2,4 Dienoyl-CoA Reductase Deficiency
2,4 Dienoyl-CoA reductase deficiency is an inborn error of metabolism resulting in defective fatty acid oxidation caused by a deficiency of the enzyme 2,4 Dienoyl-CoA reductase. Lysine degradation is also affected in this disorder leading to hyperlysinemia.
