Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision

Confirmation diagnostics in case of suspected congenital metabolic diseases from newborn screening

registered guidelines

Phenylketonurie (PKU), Mitochondriopathien, Konfirmationsdiagnostik, Methylmalonazidurie/Propionazidämie

International clinical guideline for the management of classical galactosemia

Glutaric aciduria type 1

Development stage: S3
in Überarbeitung, öffentliche Konsultationsfassung bis zum 08.04.2022 unter

Diagnostics and therapy of hyperlipidaemia in children

Development stage: S2k

Ketogenic Diet

Development stage: S1


Development stage: S3

Newborn screening for congenital metabolic disorders and endocrinopathies

Development stage: S2k

Mitochondriopathies in childhood and adolescence, diagnostics and therapeutic approaches

Development stage: S2, valid until 2014