Diseases
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Dear parents,
Currently, 2 hormone (endocrine), 25 metabolic diseases and cystic fibrosis are included in the Austrian Newborn Screening panel. These diseases are described in more detail below. In general, one of these diseases is diagnosed approximately in 1,000 infants. In most babies that are affected, these diseases have never occurred in the family before. Since the affected children can still appear completely healthy at birth, newborn screening is important in order to protect children at an early-stage of life in terms of serious diseases such as deficiencies in mental and physical development.
Detailed information is given you below to each single disorder included in newborn screening. Most of the information are provided by ORPHANET, a European website about orphan drugs and rare diseases. It contains content both for physicians and for patients. The information is also available for most diseases in Français, Español, Italiano and Português.
Hormone (endocrine) disorders
Congenital adrenal hyperplasia
https://www.ags-initiative.de/
Congenital hypothyroidism
Link - ORPHANET
Amino acidopathies and urea cycle disorder
Phenylketonuria/ Hyperphenylketonuria
Link - ORPHANET
Tyrosinemia type 1
Link - ORPHANET
Maple syrup urine disease
Link - ORPHANET
Arginosuccinic aciduria
Link - ORPHANET
Homocystinuria
Link - ORPHANET
Citrullinemia
Link - ORPHANET
Organo acidopathies
Methylmalonic aciduria
Link - ORPHANET
Propionic acidemia
Link - ORPHANET
Isovaleric acidemia
Link - ORPHANET
Glutaric aciduria type 1
Link - ORPHANET
Glutaric aciduria type 2/ Multiple acyl-CoA dehydrogenase deficiency
Link - ORPHANET
Fatty acid oxidation disorders (ß-Oxidation)
Medium-Chain-Acyl-CoA dehydrogenase deficiency
Link - ORPHANET
Very-Long-Chain-Acyl-CoA dehydrogenase deficiency
Link - ORPHANET
Long-Chain-Acyl-CoA dehydrogenase deficiency
Link - ORPHANET
Mitochondrial trifunctional protein deficiency
Link - ORPHANET
Disorders of the carnitine cycle
Carnitine palmitoyl transferase 1A deficiency
Link - ORPHANET
Carnitine palmitoyl transferase II deficiency
Link - ORPHANET
Carnitine uptake deficiency
Link - ORPHANET
Carnitine-acylcarnitine translocase deficiency
Link - ORPHANET
Biotinidase deficiency
Link - ORPHANET
Galaktosemia
Link - ORPHANET
Cystic fibrosis
Link - ORPHANET
