ORGANIC ACID DISORDERS

TEST

MATERIAL

SECTION

Organic acids by GC-MS
5ml U
Amino acid and organic acids
Pyruvate carboxilase
CC, AFC, CCV, CVS
Tissue culture
Propionyl-coa carboxilase
Propionic aciduria
CC, AFC, CCV, CVS
Tissue culture
Methylmalonyl-coa mutase
Methylmalonic aciduria
CC, AFC, CCV, CVS
Tissue culture
14C-propionate incorporation
Propionic and methylmalonic aciduria defects
(in B12 metabolism)
CC, AFC, CCV, CVS
Tissue culture
Methylcrotonyl-coa carboxilase
CC, AFC, CCV
Tissue culture
HMG-coa lyase
3-hydroksi 3-methylglutaric aciduria
CC, AFC, CCV
Tissue culture
Biotinidase
Multipl karboksilaz yetmezliği
2-3ml blood (HEP)
Amino acid and organic acids
Acyl carnitines
Includes free carnitines
1ml blood (HEP)
Metabolites

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