Abstract
Before the introduction of the NTBC treatment (Orfadine) from two tyrosinemic Hungarian families 1-3 tyrosinemic homozygous male patients died of hepatocellular carcinoma and one patient of hepatocellular carcinoma combined with clear cell renal adenocarcinoma. From the third tyrosinemic family one homozygous girl patient has been treated with NTBC (Orfadine), IMTV-AM, she is symptom-free. Her molecular genetic mutations analysis in the FAH gene detected a common intronel mutation, affecting splicing and of predicted severe effect, IVS6-1 g > t/IVS6-1 g > t with systemic name c.456-1 g > t/c.456-1 g > t (Prof. Magdalena Ugarte).
MeSH terms
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4-Hydroxyphenylpyruvate Dioxygenase / antagonists & inhibitors
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Carcinoma, Hepatocellular / genetics
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Carcinoma, Renal Cell / genetics
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Child, Preschool
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Cyclohexanones / therapeutic use*
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Enzyme Inhibitors / therapeutic use*
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Fatal Outcome
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Homozygote
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Humans
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Hungary
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Hydrolases / genetics*
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Kidney Neoplasms / genetics
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Liver Neoplasms / genetics
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Male
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Nitrobenzoates / therapeutic use*
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Treatment Outcome
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Tyrosine / blood*
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Tyrosinemias / diagnosis
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Tyrosinemias / drug therapy
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Tyrosinemias / enzymology
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Tyrosinemias / genetics*
Substances
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Cyclohexanones
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Enzyme Inhibitors
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Nitrobenzoates
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Tyrosine
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4-Hydroxyphenylpyruvate Dioxygenase
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Hydrolases
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fumarylacetoacetase
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nitisinone