SE-ATLAS

Congenital glucokinase-related hyperinsulinism Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency Mucopolysaccharidosis type 3 Mucopolysaccharidosis type 6 Biotinidase deficiency Congenital disorder of glycosylation Homocystinuria due to cystathionine beta-synthase deficiency Homocystinuria due to methylene tetrahydrofolate reductase deficiency Phenylketonuria Argininosuccinic aciduria LCAT deficiency Glycogen storage disease due to muscle phosphorylase kinase deficiency Carbamoyl-phosphate synthetase 1 deficiency Ornithine transcarbamylase deficiency Maple syrup urine disease Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia Carnitine palmitoyltransferase II deficiency Mitochondrial disease Galactosemia Isovaleric acidemia Propionic acidemia Sanfilippo syndrome type A MELAS Hyperinsulinism-hyperammonemia syndrome Sanfilippo syndrome type B Very long chain acyl-CoA dehydrogenase deficiency Medium chain acyl-CoA dehydrogenase deficiency Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency Glycogen storage disease due to liver glycogen phosphorylase deficiency Tyrosinemia type 1 Metabolic disease involving other neurotransmitter deficiency