Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

Hepatorenale Tyrosinämie

Die hepatorenalen Tyrosinämie ist eine autosomal rezessive Erkrankung die Durch eine Mutation im Tyrosinabbauweg hervorgerufen wird. Die renale Manifestation ist ein renotubuläres Fanconi-Syndrom.

Symptome

Proximaler Tubulusschaden
Die renale Maniferstation der hepatorenalen Tyrosinämie ist ein tubuläres Fanconi-Syndrom.

Gliederung

Metabolische Störungen der proximalen Tubulusfunktion
Cystinose
Fanconi-Bickel-Syndrom
Fanconi-Syndrom
Fruktoseintoleranz
Galactosämie
Glycogenspeicherkrankheit 1
Hepatorenale Tyrosinämie
FAH
Lowe-Syndrom
MELAS-Syndrom
Morbus Dent
Morbus Wilson

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2.

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156.

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157.

Arranz JA et al. (2002) 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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None (1963) TYROSINOSIS.

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Orphanet article

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OMIM.ORG article

Omim 276700 [^]
Update: 10. Mai 2019