| Entry |
|
|---|
| Name |
FAH deficiency in tyrosine degradation
|
|---|
| Definition |
Tyr -- TAT >> HPD >> HGD >> GSTZ1 >> FAH* |
|---|
| Expanded |
C00082 -- 6898 >> 3242 >> 3081 >> 2954 >> 2184v1 |
|---|
| Class |
nt06016 Phenylalanine and tyrosine metabolism
|
|---|
| Type |
Variant
|
|---|
| Pathway |
|
|---|
| Disease |
|
|---|
| Gene |
| 6898 | TAT; tyrosine aminotransferase |
| 3242 | HPD; 4-hydroxyphenylpyruvate dioxygenase |
| 3081 | HGD; homogentisate 1,2-dioxygenase |
| 2954 | GSTZ1; glutathione S-transferase zeta 1 |
| 2184 | FAH; fumarylacetoacetate hydrolase |
|
|---|
| Variant |
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|---|
| Metabolite |
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|---|
| Reference |
|
|---|
| Authors |
Arranz JA, Pinol F, Kozak L, Perez-Cerda C, Cormand B, Ugarte M, Riudor E |
|---|
| Title |
Splicing mutations, mainly IVS6-1(G>T), account for 70% of fumarylacetoacetate hydrolase (FAH) gene alterations, including 7 novel mutations, in a survey of 29 tyrosinemia type I patients. |
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| Journal |
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| LinkDB |
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