Late onset type I tyrosinemia

The authors present a case of tyrosinemia type 1, 3 years old girl at the time of diagnosis. The presenting symptoms were 3 times colic, obstipation, acute encephalopathy, hypertension, hyponatremia, according to the porphyric crisis. Her kidney function tests gave normal results during illness, onl...

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Bibliographic Details
Published inOrvosi hetilap Vol. 138; no. 28; p. 1805
Main Authors Klujber, V, Sallai, A, Kálmánchey, R, Szönyi, L, Hosszú, E
Format Journal Article
LanguageHungarian
Published Hungary 13.07.1997
Subjects
alpha-Fetoproteins - analysis
Amino Acid Metabolism, Inborn Errors - blood
Amino Acid Metabolism, Inborn Errors - diagnosis
Amino Acid Metabolism, Inborn Errors - drug therapy
Biopsy
Child, Preschool
Cyclohexanones - therapeutic use
Enzyme Inhibitors - therapeutic use
Female
Humans
Liver Cirrhosis - diagnosis
Liver Cirrhosis - etiology
Liver Cirrhosis - pathology
Nitrobenzoates - therapeutic use
Palliative Care
Porphyrias - etiology
Tyrosine - blood
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Summary:The authors present a case of tyrosinemia type 1, 3 years old girl at the time of diagnosis. The presenting symptoms were 3 times colic, obstipation, acute encephalopathy, hypertension, hyponatremia, according to the porphyric crisis. Her kidney function tests gave normal results during illness, only once an increased calcium turnover was observed. She has no singe of rachitis. Cirrhosis of the liver was proved by biopsy because of progressively rising gammaGT and alfa-fetoprotein levels. A new ensime-blocker (NTBC) treatment was started in an international collaboration. The authors compare the history of this case to that of others published in the literature. They summarize the pathomechanism of the disease.
ISSN:0030-6002