Villa Metabolica - Arbeitsgemeinschaft Lysosomale Speicherkrankheiten der Universitätsmedizin Mainz Assigned diseases:
In the following you will find the diseases that are treated in this facility:
Alpha-mannosidosis
Argininemia
Beta-mannosidosis
Chronic visceral acid sphingomyelinase deficiency
Citrullinemia
Fabry disease
GM1 gangliosidosis
GM2 gangliosidosis
Galactosemia
Gaucher disease
Glycine encephalopathy
Glycogen storage disease due to acid maltase deficiency
Glycogen storage disease due to glucose-6-phosphatase deficiency
Infantile neurovisceral acid sphingomyelinase deficiency
Isovaleric acidemia
Maple syrup urine disease
Mucopolysaccharidosis
Mucopolysaccharidosis type 1
Mucopolysaccharidosis type 2
Mucopolysaccharidosis type 3
Mucopolysaccharidosis type 4
Mucopolysaccharidosis type 6
Mucopolysaccharidosis type 7
Niemann-Pick disease type C, adult neurologic onset
Niemann-Pick disease type C, juvenile neurologic onset
Niemann-Pick disease type C, severe perinatal form
Niemann-Pick disease type D
Niemann-Pick disease type E
Ornithine transcarbamylase deficiency
Phenylketonuria
Propionic acidemia
Tyrosinemia type 1
Tyrosinemia type 2
Tyrosinemia type 3
Wolman disease