| Entry |
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| Name |
FAH deficiency in tyrosine degradation
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| Definition |
Tyr -- TAT >> HPD >> HGD >> GSTZ1 >> FAH* |
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| Expanded |
C00082 -- 6898 >> 3242 >> 3081 >> 2954 >> 2184v1 |
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| Class |
nt06016 Phenylalanine and tyrosine metabolism
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| Type |
Variant
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| Disease |
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| 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 |
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| Variant |
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| Metabolite |
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| Reference |
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| 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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