AMINO ACID DISORDERS

TEST

MATERIAL

SECTION

2-DTCL
5ml U
Aminoacid and organic acids
Quantitative amino acids
3ml blood (HEP)
Aminoacid and organic acids
White cell cystine
Cystinosis
5ml blood (HEP)
Aminoacid and organic acids
Pterins
PKU varyants
2ml U
Metabolites
Orotic acid
Urea cycle defects
2ml U
Metabolites
14c-citrulline incorporation
Citrullinaemia and arginosuccinic aciduria
CC, AFC and CCV
Tissue Culture
14c-leucine oxidation
Maple syrup urine disease
CC and AFC
Tissue Culture
14c-methionine synthesis
Homocysistinuria remethylation
2ml U
Tissue Culture

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