Tyrosine metabolism disorders

Types

Other name

Defective enzyme

Urine odor

Tyrosinemia Type l

Hepato renal tyrosinemia

Fumaryl aceto acetate hydrolase

Cabbage odor
of urine

Tyrosinemia Type ll /
Richner Hanhart syndrome

Oculo cutaneous tyrosinemia

Tyrosine transaminase
or Tyrosine amino transferase (TAT)

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Tyrosinemia Type lll

Neonatal tyrosinemia

4-HPPD (Hydroxy phenyl
pyruvate dioxygenase)

Swimming pool odor
of urine

Hawkinsuria

-

Mis sense mutation
in gene of 4-HPPD

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