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| Metabolic pathways and their disorders | Guidelines | Link |
|---|---|---|
| Disorders of amino acid metabolism | Consensus guidelines for the diagnosis and management of isolated sulfite oxidase deficiency and molybdenum cofactor deficiencies | PMID: 38627985 |
| Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision | PMID: 33595124 | |
| Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision | PMID: 30982989 | |
| Disorders of carbohydrate metabolism | International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up | PMID: 27858262 |
| Pompe disease diagnosis and management guideline | PMID: 16702877 | |
| Start, switch and stop (triple-S) criteria for enzyme replacement thearyp of late-onset Pompe diasese: European Pompe Consortium recommendation update 2024 | PMID: 38873957 | |
| The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II) | PMID: 39482698 | |
| Home infusion therapy for Pompe disease: Recommendations for German-speaking countries | PMID: 33906241 | |
| Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics | PMID: 25356975 | |
| Glycogen storage disease type III diagnosis and management guidelines | PMID: 20631546 | |
| Diagnosis and management of glycogen storage diseases type VI and IX: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG) | PMID: 30659246 | |
| Disorders of fatty acid and ketone body metabolism | Nutrition management guideline for very-long chain acyl-CoA dehydrogenase deficiency (VLCAD): An evidence- and consensus-based approach | PMID: 33093005 |
| Disorders of energy metabolism | Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society | PMID: 28749475 |
| Patient care standards for primary mitochondrial disease in Australia: an Australian adaptation of the Mitochondrial Medicine Society recommendations | PMID: 34505344 | |
| Congenital disorders of glycosilation | International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up | PMID: 30740725 |
| International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management | PMID: 32681750 | |
| Consensus guideline for the diagnosis and management of mannose phosphate isomerase-congenital disorder of glycosylation | PMID: 32266963 | |
| ALG13-Congenital Disorder of Glycosylation (ALG13-CDG): Updated clinical an molecular review and clinical management guidelines | PMID: 38703411 | |
| Disorders of complex molecule degradation | Fabry disease revisited: Management and treatment recommendations for adult patients | PMID: 29530533 |
| Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus document | PMID: 25885911 | |
| Management and monitoring recommendations for the use of eliglustat in adults with type 1 Gaucher disease in Europe | PMID: 27522145 | |
| Critical review of current MPS guidelines and management | PMID: 30143438 | |
| Sanfilippo syndrome: consensus guidelines for clinical care | PMID: 36303195 | |
| Recommendations for the management of MPS VI: systematic evidence- and consensus-based guidance | PMID: 31142378 | |
| International guidelines for the management and treatment of Morquio A syndrome | PMID: 25346323 | |
| Monitoring and integrated care coordination of patients with alpha-mannosidosis: A global Delphi consensus study | PMID: 39024860 | |
| Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann-Pick disease types A, B and A/B) | PMID: 37069638 | |
| Consensus clinical management guidelines for Niemann-Pick disease type C | PMID: 29625568 | |
| Recommendations for the detection and diagnosis of Niemann-Pick disease type C: An update | PMID: 29431164 | |
| Disorders of vitamin and cofactor metabolism | Consensus recommendations for the diagnosis treatment, and follow-up of inherited methylation disorders | PMID: 27671891 |
| Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency | PMID: 27905001 | |
| Neurotransmitter disorders | Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency | PMID: 28100251 |
| Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies | PMID: 32456656 | |
| Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiency | PMID: 38452608 | |
| Endocrine metabolic diseases | International Guidelines for the Diagnosis and Management of Hyperinsulinism | PMID: 37454648 |