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Physician Pocket Reference
 

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

Carnitine uptake deficiency

C0

CPT 1 deficiency

C0; C0/C16

Ethylmalonic encephalopathy

C5

LCHAD

C16-OH

MCAD

C8; C6,C10

VLCAD

C14:1 +/-

ORGANIC ACIDEMIAS

Beta-ketothiolase deficiency

C5-OH

Biotinidase deficiency

C5-OH

Holocarboxylase deficiency

C5-OH

HMG-CoA lyase deficiency

C5-OH

2M3HBA

C5-OH

3MGA

C5-OH

3MCC

C5-OH

Glutaric acidemia 1

C5-DC

Isovaleric acidemia

C5

Short/branched chain acyl-CoA dehydrogenase deficiency

C5

Methylmalonic acidemias

C3

Propionic acidemia

C3

AMINO ACIDEMIAS

Argninosuccinic aciduria

Citrulline

Citrullinemia I

Citrulline

Citrullinemia II

Citrulline

Pyruvate carboxylase deficiency

Citrulline

Homocystinuria

Methionine

Hypermethioninemia

Methionine

GNMT

Methionine

Adenosylhomocysteine hydroxylase deficiency

Methionine

MSUD

Leucine

Hydroxyprolinuria

Leucine

Phenylketonuria (PKU)

Phenylalanine

Biopterin cofactor biosynthesis defect

Phenylalanine

Biopterin cofactor regeneration defect

Phenylalanine

Tyrosinemia I

Tyrosine

Tyrosinemia II

Tyrosine

Tyrosinemia III

Tyrosine