5C90.2/E70-E90 Liver diseases due to disorders of amino acid metabolism



Liver diseases due to disorders of amino acid metabolism are caused by inherited genetic disorders that affect how the body metabolizes specific amino acids, or the building blocks of proteins. Common examples include phenylketonuria (PKU), maple syrup urine disease (MSUD), and homocystinuria.


Diagnosis of these disorders is usually done through the analysis of the patient’s medical history, physical examination, and laboratory testing. These tests may include measuring the concentrations of amino acids in the blood, urine, and other bodily fluids, as well as genetic testing.

Differential diagnosis

Differential diagnosis of liver diseases due to disorders of amino acid metabolism would include other liver diseases such as cirrhosis, fatty liver disease, and hepatitis.


Treatment of these disorders depends on the specific disorder and varies from person to person. In general, treatment may include dietary restriction of the affected amino acids, supplementation with other essential amino acids, and medications to help control symptoms.


Prognosis of these disorders varies depending on the specific disorder and the severity of the disorder. In general, prognosis is good when the disorder is diagnosed and treated early on.

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