[Neurological crisis in type 1 hereditary thyrosinemia].
Type 1 hereditary thyrosinemia is a recessive autosomic disease arising from a deficit of fumarylacetoacetate hydrolase enzyme. Neurological changes are similar to those of intermittent acute porphyria, with no biological warning markers nor treatment other than that of symptoms. We present 2 patients suffering several sudden crises of peripheral neuropathy, with other signs of "neurological crisis" occurring at times. We conclude that neurological signs of the diseases are frequent and severe and that, in our limited experience, early liver transplant is the only way of preventing them.
Zuazo
E
E
Departamento de Pediatría, Hospital de Cruces, Vizcaya.
Garaizar
C
C
Labayru
M
M
Prats
J M
JM
D003937:Diagnosis, Differential; D005260:Female; D006529:Hepatomegaly / Q000209:etiology / Q000601:surgery; D006801:Humans; D006867:Hydrolases / Q000172:deficiency*; D016031:Liver Transplantation; D008297:Male; D008715:Methionine / Q000097:blood; D009422:Nervous System Diseases / Q000175:diagnosis* / Q000209:etiology; D010523:Peripheral Nervous System Diseases / Q000175:diagnosis / Q000209:etiology; D011164:Porphyrias / Q000175:diagnosis* / Q000201:enzymology; D014443:Tyrosine / Q000097:blood / Q000378:metabolism
D014443:Tyrosine; D008715:Methionine; D006867:Hydrolases; C020156:fumarylacetoacetase
Crisis neurológicas en la tirosinemia hereditaria tipo I.