| Entry |
|
|---|
| Name |
HSD17B4 deficiency in beta-oxidation
|
|---|
| Definition |
Very-long-chain-acyl-CoA(n) -- ACOX1/3 >> HSD17B4* |
|---|
| Expanded |
C20876 -- (51,8310) >> 3295v1 |
|---|
| Class |
nt06021 beta-Oxidation in peroxisome
|
|---|
| Type |
Variant
|
|---|
| Disease |
| H00407 | Peroxisomal beta-oxidation enzyme deficiency |
| H02098 | D-bifunctional protein deficiency |
|
|---|
| Gene |
| 51 | ACOX1; acyl-CoA oxidase 1 |
| 8310 | ACOX3; acyl-CoA oxidase 3, pristanoyl |
| 3295 | HSD17B4; hydroxysteroid 17-beta dehydrogenase 4 |
|
|---|
| Variant |
3295v1 (HSD17B4*) HSD17B4 deficiency
|
|---|
| Metabolite |
| C20876 | Very-long-chain acyl-CoA |
|
|---|
| Reference |
|
|---|
| Authors |
van Grunsven EG, van Berkel E, Ijlst L, Vreken P, de Klerk JB, Adamski J, Lemonde H, Clayton PT, Cuebas DA, Wanders RJ |
|---|
| Title |
Peroxisomal D-hydroxyacyl-CoA dehydrogenase deficiency: resolution of the enzyme defect and its molecular basis in bifunctional protein deficiency. |
|---|
| Journal |
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| LinkDB |
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