Tyrosinemia Type 1 (Tyrosinosis)
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Presenting symptom: "cabbage-like odor"
- Although it characteristically causes a "cabbage-like odor", it importantly causes:
- Lliver Failure
- Kidney Failure
- Polyneuropathy
- Bone dysplasia (rickets)
- It manifests early-on with diarrhea, vomiting and tyrosine and its metabolites in the urine.
Pathogenesis
- Fumarylacetoacetate hydrolase deficiency
Transient tyrosinemia
- Transient tyrosinemia (elevated blood levels of tyrosine) occurs in ~ 10% of newborns, most often due to vitamin C deficiency or immature liver enzymes due to premature birth.
References
- Calvo, Sherri; Collins, Heather; Greenberg, Kathleen, et. al at US National Library of Medicine, Genetics Home Reference. https://ghr.nlm.nih.gov