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Physician Pocket Reference:

ENDOCRINE DISORDERS

• Primary congenital hypothyroidism
• Congenital adrenal hyperplasia (CAH) (21-hydroxylase deficiency)

GENETIC DISORDERS

• Cystic Fibrosis

CARBOHYDRATE DISORDERS

• Galactosemia

CARNITINES - Fatty acid oxidation disorders

• Carnitine uptake deficiency – C0
• CPT 1 Deficiency – C0,C0/C16
• Ethylmalonic encephalopathy
• LCHAD – C16-OH
• MCAD -C8,C6,C10
• VLCAD – C14:1 +/-

ORGANIC ACIDEMIAS

• Beta-ketothiolase deficiency
• Biotinidase deficiency
• Holocarboxylase deficiency
• HMG-CoA lyase deficiency
• 2M3HBA
• 3MGA
• 3MCC
• Glutaric acidemia 1
• Isovaleric acidemia
• Short/branched chain acyl-CoA dehydrogenase deficiency
• Methylmalonic acidemias
• Propionic acidemia

AMINO ACIDEMIAS

• Argninosuccinic aciduria
• Citrullinemia I
• Citrullinemia II
• Pyruvate carboxylase deficiency
• Homocystinuria
• Hypermethioninemia
• GNMT
• Adenosylhomocysteine hydroxylase deficiency
• MSUD
• Hydroxyprolinuria
• Phenylketonuria (PKU)
• Biopterin cofactor biosynthesis defect
• Biopterin cofactor regeneration defect
• Tyrosinemia I
• Tyrosinemia II
• Tyrosinemia III