Diagnosis & Management of Tyrosinemia [TYPE 2]

Two most important aspects of an illness! Diagnosis and Management for Type II Tyrosinemia!

Diagnosis

• Detection of increased levels of tyrosine in plasma (while other amino acids remain at normal levels) by using tandem mass spectrometry
• Detection of high levels of tyrosine metabolites in urine (E.g. 4-hydroxyphenylpyruvate, 4-hydroxyphenyllactate and 4-hydroxyphenylacetate)
• Liver biopsy for TAT assay is rarely necessary

Management
1) Dietary restriction

• Reduce intake of phenylalanine and tyrosine in diet
• Plasma tyrosine levels will decrease and skin and eye symptoms will improve after the change in diet
• However, it is unclear whether the restricted diet can help to improve the CNS conditions

2) Oral Retinoids

• Improves skin lesions without changing the tyrosine levels

As you can see, the diagnosis and management for type I and type II are pretty much similar. In fact, same goes for type III as tyrosinemia is mainly about a build up of tyrosine due to the inability of the body to break them down. /shrugs
Goodnight!