Tyrosinemia

 Distinguished clinically



• Hereditary fructose intolerance
image Distinct ultrastructural features

• Neonatal hemochromatosis




Diagnostic Checklist




• Fibrosis with variable amounts of steatosis and cholestasis; requires clinical correlation

• High risk of hepatocellular carcinoma

image
Micronodular Cirrhosis and Fatty Change
This liver with micronodular cirrhosis demonstrates focal areas of large droplet fatty change in some nodules. The fatty change in tyrosinemia is often patchy.


image
Dysplastic Nodule
A dysplastic nodule image in a patient with tyrosinemia displays both small cell change and widened plate architecture. Note the adjacent normal liver image. (Courtesy M. J. Finegold, MD.)

image
Hepatocellular Carcinoma and Cirrhosis
Gross photograph of an explanted cirrhotic liver from a 1.5 year old depicts a 7.5-cm multinodular, yellow mass image as well as smaller nodules image. (Courtesy M. J. Finegold, MD.)

image
Hepatocellular Carcinoma
Histology of a mass from an explanted cirrhotic liver is shown. Note the abnormal plate architecture and enlarged hyperchromatic nuclei typical of hepatocellular carcinoma. (Courtesy M. J. Finegold, MD.)


TERMINOLOGY


Abbreviations




• Fumarylacetoacetate hydroxylase (FAH) deficiency


Synonyms




• Tyrosinemia, type I

• Hereditary tyrosinemia

• Hepatorenal tyrosinemia


Definitions




• Inborn error of metabolism in tyrosine catabolism pathway
image Deficiency of FAH

image Results in cirrhosis and hepatocellular carcinoma early in life


ETIOLOGY/PATHOGENESIS


Molecular Basis




• Fumarylacetoacetate hydrolase deficiency due to 15q23-q25 gene mutations
image Accumulation of toxic and mutagenic metabolites, maleylacetoacetate, and fumarylacetoacetate

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Apr 20, 2017 | Posted by in PATHOLOGY & LABORATORY MEDICINE | Comments Off on Tyrosinemia
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