ENDOCRINE DISORDERS
Primary congenital hypothyroidism
Elevated TSH
Congenital adrenal hyperplasia (CAH) (21-hydroxylase deficiency)
Elevated 17-OHP
GENETIC DISORDER
Cystic Fibrosis
Immunoreactive trypsinogen
CARBOHYDRATE DISORDERS
Galactosemia
Galactose 1-phosphate (GALT)
CARNITINES Fatty acid oxidation disorders
C0
CPT 1 deficiency
C0; C0/C16
Ethylmalonic encephalopathy
C5
LCHAD
C16-OH
MCAD
C8; C6,C10
VLCAD
C14:1 +/-
ORGANIC ACIDEMIAS
C5-OH
Biotinidase deficiency
Holocarboxylase deficiency
HMG-CoA lyase deficiency
2M3HBA
3MGA
3MCC
Glutaric acidemia 1
C5-DC
Isovaleric acidemia
Short/branched chain acyl-CoA dehydrogenase deficiency
Methylmalonic acidemias
C3
Propionic acidemia
AMINO ACIDEMIAS
Argninosuccinic aciduria
Citrulline
Citrullinemia I
Citrullinemia II
Pyruvate carboxylase deficiency
Homocystinuria
Methionine
Hypermethioninemia
GNMT
Adenosylhomocysteine hydroxylase deficiency
MSUD
Leucine
Hydroxyprolinuria
Phenylketonuria (PKU)
Phenylalanine
Biopterin cofactor biosynthesis defect
Biopterin cofactor regeneration defect
Tyrosinemia I
Tyrosine
Tyrosinemia II
Tyrosinemia III
