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8 Cards in this Set

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tyrosinemia I

symptoms: jaunidice, infant failure to thrive, diarrhea and vomitting,

-can lead to liver and kidney failure, softening and weakening of the bones (rickets), and an increased risk of liver cancer, plasma TYR and Phe in plasma, increase succinylacetone in urine

- caused by def. fumarylacetoacetate hydrolase enzyme, which is responsible for the final step of tyrosine breakdown

-most severe

-treated: Nitrisinone, decrease PHE and TYR intake

tyrosinemia II

-caused by TAT gene, called tyrosine aminotransferase enzyme, is involved at the first step in the process

- early childhood, corneal lesions, excessive tearing, abnormal sensitivity to light (photophobia), and thick, painful skin on the palms of their hands and soles of their feet (palmoplantar hyperkeratosis

- + Tyr and + Phe in blood

- treatment: decreased Phe and Tyr

tyrosinemia III

-The characteristic features of this type include intellectual disability, seizures, and periodic loss of balance and coordination (intermittent ataxia)

-The HPD gene provides instructions for making the 4-hydroxyphenylpyruvate dioxygenase enzyme, which is responsible for the second step to HGA.


- can't break down Phe

-seizurs,MR, pale skin, odor

- (+) phe in blood and (-) Tyr

-autosomal recessive def. Phe hydroxylase

-high Phe intake has toxic effect in brain,low IQ,

-treated with low Phe intake and high supplement of tyrosine

-biopterin can be supplemented

- common in europeans

ornathine transcarbamoylase deficiency

-lack of enzyme

-mental retardation and death

-x linked

-amino acid increase in blood, orotic acid increase

Argininosuccinate syntheses and lyase def.

-accumulation of citrulline in blood and urine

-supplement with ARG for protein synthesis and formation of creatine

impaired ability to split argininosuccinate to form arginine

arginase def

abnormalities in development and function of the central nervous system

-arginine accumulates and is excreted

-treated with ARG free diet

carbamoyl phosphate synthetase and n-acetylglutamate synthetase def


-leads to MR

-carbamoyl glutamate supplements helps to activate carbamoyl phosphate syntheses