User:James Bahng/sandbox 1

1HYO is an EC 3.7.1.2 hydrolase cleaving C-C bonds in ketone bodies.

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Function

Disease

Mutations in 1HYO are responsible for hereditary tyrosemia Type I, a serious metabolic disease resulting in chronic inflammation of the liver and neuronal damage. It is in the same metabolic pathway as Phenylketonuria (PKU) in infants, and is treated similarly with strict dietary control and pharmacological inhibition of Phenylalanine hydroxylase, the key first enzyme in the degradation pathway.

Relevance

Structural highlights

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