Tyrosinemia type III | |
---|---|
Other names | TYRSN3 [1] |
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Tyrosine | |
Specialty |
Endocrinology
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Tyrosinemia type III is a rare disorder caused by a deficiency of the enzyme 4-hydroxyphenylpyruvate dioxygenase ( EC 1.13.11.27), encoded by the gene HPD. [2] This enzyme is abundant in the liver, and smaller amounts are found in the kidneys. It is one of a series of enzymes needed to break down tyrosine. Specifically, 4-hydroxyphenylpyruvate dioxygenase converts a tyrosine byproduct called 4-hydroxyphenylpyruvate to homogentisic acid. Characteristic features of type III tyrosinemia include mild mental retardation, seizures, and periodic loss of balance and coordination ( intermittent ataxia). Type III tyrosinemia is very rare; only a few cases have been reported. [2]
Tyrosinemia type III | |
---|---|
Other names | TYRSN3 [1] |
![]() | |
Tyrosine | |
Specialty |
Endocrinology
![]() |
Tyrosinemia type III is a rare disorder caused by a deficiency of the enzyme 4-hydroxyphenylpyruvate dioxygenase ( EC 1.13.11.27), encoded by the gene HPD. [2] This enzyme is abundant in the liver, and smaller amounts are found in the kidneys. It is one of a series of enzymes needed to break down tyrosine. Specifically, 4-hydroxyphenylpyruvate dioxygenase converts a tyrosine byproduct called 4-hydroxyphenylpyruvate to homogentisic acid. Characteristic features of type III tyrosinemia include mild mental retardation, seizures, and periodic loss of balance and coordination ( intermittent ataxia). Type III tyrosinemia is very rare; only a few cases have been reported. [2]