Orphan disease diagnostic (newborn screening method ТМS)

HMD are a group of hereditary diseases caused by mutations in genes that result in severe metabolic defects.

List of diagnosable hereditary metabolic diseases:

• Classical phenylketonuria
• Atrophy of the vasculature of the eye
• Other types of hyperphenylalaninemia
• Tyrosine metabolism disorder
• Tyrosinemia type I
• Tyrosine metabolism disorder
• Tyrosinemia type II
• Tyrosine metabolism disorder
• Tyrosinemia type III
• Histidinemia
• Forminoglutamic acidemia
• Maple syrup urine disease
• Maple syrup urine disease, type III
• E3-deficient form with lactoacidosis
• Isovalerian acidemia
• Methylglutaconic aciduria
• 3-hydro-3-methylglutaric aciduria
• Veta-ketothiolase deficiency
• Methylcrotonyl-CoA carboxylase deficiency
• 2-Methyl-3-hydroxybutyryl aciduria
• 2-Methyl-3-hydroxybutyryl glycinuria
• Isobutyryl glycinuria
• Hypervalinemia
• Methylmalonic acidemia
• Methylmalonic acidemia and homocystinuria
• Propionic acidemia
• Very long chain acyl-CoA dehydrogenase deficiency
• Medium chain acyl-CoA dehydrogenase deficiency
• Short chain acyl-CoA dehydrogenase deficiency
• Glutaric acidemia, type II
• Long chain L-3-hydroxyacyl-CoA dehydrogenase deficiency
• Trifunctional protein deficiency
• Medium chain ketoacyl-CoA thiolase deficiency
• 2,4-dienoyl-CoA reductase deficiency
• Carnitine palmitoyltransferase I deficiency
• Carnitine palmitoyltransferase II deficiency
• Carnitine acylcarnitine transferase deficiency
• Short chain L-3-hydroxyacyl-CoA dehydrogenase deficiency
• Malonic acidemia
• Carnitine transporter deficiency
• X-linked adrenoleukodystrophy
• Homocystinuria
• Homocystinuria-metabolic anemia
• Methylcobalamin deficiency
• Methyltetrahydrophilate reductase deficiency
• Hypermethioninemia
• Argininemia Argininosuccinaaciduria
• Citrullinemia type I
• Citrullinemia type II
• Carbamoyl phosphate synthetase deficiency Hyperammonemia
• Glutaric acidemia type I
• Hyperlysinemia
• Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome
• Non-ketone hyperglycinemia
• Hyperhydroxyprolinemia
• Hyperprolinemia type I
• Hyperprolinemia type II
• Pyruvate carboxylase deficiency
• Primary lactic acidemia
• Succinyl-CoA ligase deficiency
• Ethylmalonic encephalopathy
• Pyroglutamic acidemia
• Multiple carboxylase deficiency
• Maternal carnitine uptake defect
• Maternal 3-methylcrotonyl-CoA carboxylase deficiency
• Maternal glutaryl acidemia, type I