[Tyrosinosis. A difficult diagnosis of late infancy].
The Authors report an unusual case of tyrosinosis in which neonatal metabolic screenings were not performed and the diagnosis was made only at 4 years of age. The diet induced an improvement of cirrhosis but did not influence renal tubular damage. The authors stress the diagnostic differential elements against other cirrhogenic metabolic diseases and emphasize the prospectives of liver transplantation.
Bertolani
M F
MF
Istituto di Clinica Pediatrica e Scuola di Specializzazione in Pediatria II, Università degli Studi di Modena.
Pellegrino
A M
AM
Summa
C
C
Scalera
E
E
D000592:Amino Acid Metabolism, Inborn Errors / Q000150:complications / Q000175:diagnosis*; D003951:Diagnostic Errors; D005260:Female; D006801:Humans; D006867:Hydrolases / Q000172:deficiency*; D007015:Hypophosphatemia, Familial / Q000209:etiology; D007223:Infant; D008607:Intellectual Disability / Q000209:etiology; D007674:Kidney Diseases / Q000209:etiology; D008103:Liver Cirrhosis / Q000209:etiology; D016031:Liver Transplantation; D009447:Neuroblastoma / Q000175:diagnosis; D014443:Tyrosine / Q000378:metabolism*
D014443:Tyrosine; D006867:Hydrolases; C020156:fumarylacetoacetase
Tirosinosi. Una diagnosi difficile nella seconda infanzia.