Diagnosis of Tyrosinemia [TYPE 1]

Besides knowing the symptoms and complications, we must also make sure we know HOW to confirm that a patient has gotten a certain disease. I mean, a wrong diagnosis would be pretty awful right? If the diagnosis is wrong, it is highly likely that treatment would be wrong and thus ineffective too. 
THAT IS VERY BAD LEH.  :<
So here we have, the supposed biochemical results of a tyrosine type I patient.

Testing for tyrosinemia in the laboratory gives the following biochemical results:

• High levels of succinylacetone in blood (dried blood spots), plasma and urine
• High concentrations of tyrosine, methionine and phenylalanine in plasma
• High levels of tyrosine metabolites in urine
• High levels of alpha-feto protein
• Liver function tests shows abnormality
• FAH assays of liver biopsy, skin fibroblasts or dried blood spots
• Low serum albumin and clotting factors
• Elevated transaminase levels
• Increased bilirubin levels

Newborn Screening Methods

• Concentration of tyrosine or methionine in blood
• Measuring succinylacetone directly from dried blood spots by tandem mass spectrometry (more sensitive and specific)
• Assay of Delta-Ala-dehydratasse (PBG synthase) enzyme activity

Prenatal Diagnosis

• By performing mutation analysis on Chorionic Villus Sampling (CVS) or amniocytes
• FAH assay on CVS or amniocytes
• Measurement of succinylacetone levels in amniotic fluid

To all future doctors,

Please do not make a mistake in diagnosis! >.<

Must triple check all the results okay! 

Sigh, back to school tomorrow! :(