DDIEM - IEM drug database
This page lists important national and international protocols for the treatment of genetic diseases as a reference for consultation. All references listed are intended for healthcare professionals who deal with patients with genetic disorders. Because these are very rare conditions, and it is difficult to generate new evidence, some approaches may differ between different authors. Emergency guidelines and drug databases should be used with caution, following the terms of use described by the authors on their website.
New England Consortium- Emergency Treatment
DDIEM - Drug database
Grunert & Sass, 2020 - Review of all published cases, with discussion of treatments
OMMBID -Review of diagnosis and treatment of ketogenesis disorders
New England Consortium of Metabolic Programs - emergency treatment
Arnold et al., 2008 - International consensus on diagnosis and management
Geberhiwot et al., 2023 - International consensus clinical management guidelines
Genereviews - Point-of-care review on diagnosis and treatment of ASMD
Gedik et al., 2022 - Consensus on diagnosis and treatment of Aicardi-Goutières syndrome
Vanderver et al., 2020 - Open-label study of baricitinib on Aicardi-Goutières syndrome. Includes detailed information on dosis, safety and efficacy evaluations in the supplementary material.
Genereviews - review
Baruteau et al., 2019 - Review on pathophysiology and therapeutic perspectives
Frez et al., 2011 - Review on pathophysiology, diagnosis and treatment
New England Consortium of Metabolic Programs - emergency treatment
Lalloo et al., 2023 - Clinical practice guidelines for the diagnosis and surveillance
Grünert & Sass, 2020 - Review of all published cases, with discussion of treatments
Tankeu et al., 2023 - Review of published case series, including sign and symptoms, clinical presentation, outcomes.
Wolf, 2022 - Commentary about use of biotin in biotin-responsive disorders.
PCDT, 2018 - Brazilian Public Health system guidelines
Wolf, 2012 - Comprehensive review of practical issues on the diagnosis and management of Biotinidase deficiency
Sanchez et al., 2018 - Study on the use of baricitinib in patients with CANDLE and other interpheronopathies.
Genereviews - Practical review of diagnosis and treatment.
Yuan et al., 2021 - Evaluation of liver transplant outcomes in a single center
Genereviews - review on diagnosis and treatment
Stepien et al., 2023 - UK consensus
Burlina et al., 2023 - Biomarkers for Fabry Disease
Wanner et al., 2018 - European consensus on therapeutic goals
Ortiz et al., 2018 - Expert consensus on management of adult patients
Germain et al., 2019 - Expert consensus on management of children
Diretrizes Brasileiras - Brazilian public health system guidelines for diagnosis and treatment of Fabry disease
Généo, 2021 - Treatment protocol of the French Fabry Disease Reference Center.
Sirrs et al., 2018 - Canadian Protocol
Australian Government - Australian government criteria for initiation and renewal of treatment with agalsidase alfa, agalsidase beta and migalastat.
Genereviews - General review of diagnosis and treatment of free sialic acid storage disease
PCDT Gaucher 2017 - Brazilian Government treatment guidelines.
Kishnani PS et al., 2021 - International Delphi consensus on diagnosis and treatment
Biegstraaten M et al., 2018 - Therapeutic goals in Gaucher disease
Keppler et al., 2020 - Recommendations from the International Glut1 Deficiency Study Group
Tang et al., 2019 - Discusses therapeutic strategies applied to Glut1 deficiency
BIMDG -Emergency Treatment
Boy et al., 2022 - Revised international guidelines on the treatment of type I glutaric aciduria.
Strauss et al., 2020 - It describes the glutaric acidemia treatment strategy used at the Clinic for Special Children in Pennsylvania and discusses aspects of diagnosis and prognosis.
E-IMD - Summary booklet for health professionals on type I glutaric aciduria.
Genereviews - General review on diagnosis and treatment.
Koch et al., 2023 - Guidelines from the Association for Glycogen Storage Disease (AGSD) in the United States
Genereviews - review
Lucia et al., 2021 - Treatment guidelines, including guidance on monitoring in supplementary article material.
Grünert et al., 2024 - Guidelines on empaglifozin treatment for GSD Ib
Kishnani et al., 2014 - ACMG Guidelines
Genereviews - review
PCDT, 2020 - Brazilian Public Healthcare System clinical protocols and therapeutic guidelines
Forny et al., 2021 - European guideline of methylmalonic and propionic acidemia. Includes acute management and long-term follow-up. Review of the original 2014 protocol
Genereviews - Review of diagnosis and treatment
BIMDG - Emergency treatment
New England Consortium - Emergency treatment
E-IMD - Concise review on diagnostic principles, treatment and prognosis
Manoli & Venditti, 2016 - Discusses branched-chain (including isovaleric) organic acidurias
Vockley, 2006 - Review on isovaleric acidemia
DDIEM - Lists drugs used in isovaleric acidemia and respective references that support their use.
van der Louw et al, 2016 - Treatment guidelines in infants
Kossoff et al., 2018 - clinical management guidelines from the International Ketogenic Diet Study Group
Oishi et al., 2016 - Overview of liver transplantation in IEM
NCCN - cancer prophylaxis recommendations.
Seppäla et al, 2021 - European gene and gender-specific management guidelines
Rodan et al., 2018 - Emergency treatment, from the Boston Children's Hospital group.
New England Consortium of Metabolic Programs - Emergency Treatment
Southeast Regional Genetics Network / GMDI - Nutritional management guidelines
Strauss et al., 2020 - Clinic for Special Children Guidelines (Strasburg, PA, USA)
Genereviews - Review on diagnosis and treatment
New England Consortium - Emergency guidelines
Huemer et al., 2016 - Guidelines E-HOD. Includes other remethylation disorders.
Huemer et al., 2016 - E-HOD Guidelines . Includes other remethylation disorders.
Huemer et al., 2016 - E-HOD guidelines
Kacpura et al., 2022 - Higher doses of hydroxocobalamin
Tinker et al., 2021 - Review of treatments currently available and under development
Barcelos et al., 2020 - Evidence-based review of therapies for mitochondrial diseases
Parick et al., 2017 - Consensus on the care of patients with primary mitochondrial diseases
Parick et al., 2014 - Consensus on diagnosis and management
Hirano et al., 2020 - Article elaborated after an international consensus conference, describing diagnosis, prognosis and treatment.
Filosto et al., 2018 - General review
Kubaski et al., 2020 - Review on diagnosis and treatment
PCDT, 2018 -Brazilian Public Health System Guidelines
McBride et al., 2020 - ACMG recommendations
PCDT 2018 - Brazilian Public Health System Guidelines
Akyol et al., 2019 - International Consensus
PCDT 2020 - Brazilian Public Health System Guidelines
Akyol et al., 2019 - International Consensus of Experts
PCDT 2020 - Brazilian Public Health System Guidelines
Genereviews - Practical review of diagnosis and management.
Wells Jr, 2015 - American Thyroid Association Management Guidelines for Medullary Thyroid Carcinoma, including MEN2A and MEN2B
Guelbert et al., 2020 - Review by Latin American experts with recommendations for clinical follow-up
Genereviews - Review on diagnosis and treatment
Nowak et at., 2022 - review of available treatments.
Hennerman et al., 2011 - Prognosis of patients with NKH
Tischkowitz, 2021 - ACMG recommendations for management of individuals with PALB2 variants
Adams et al., 2023 - ACMG Review
Spronsen, et al., 2021 - Nature Reviews Disease Primers
PCDT, 2019 - Brazilian Public Health System guidelines.
Wegberg et al., 2017 - European guidelines
Southeast Regional Genetics Network / GMDI - Nutrition Management Guidelines
Genereviews - Diagnosis and treatment guidelines
Altassan et al., 2019 - International diagnosis and treatment guidelines
PCDT, 2020 - Brazilian Public Health System Guidelines
Kishnani, 2006 - ACMG recommendations for diagnosis and management
Anderson KE, 2019 - Diagnosis and treatment of acute hepatic porphyrias
Stölzel et al., 2019 - Clinical Guide and Update on Porphyrias, including short case reports
DDIEM - IEM drug database
Stölzel et al., 2019 - Clinical Guide and Update on Porphyrias, including short case reports
Anderson KE, 2019 - Diagnosis and treatment of acute hepatic porphyrias
Karim et al., 2015 - General review on porphyrias, including very useful figures and tables.
Forny et al., 2021 - European guideline of methylmalonic and propionic acidemia. Includes acute management and long-term follow-up. Review of the original 2014 protocol
Jurecki et al., 2019 - Consensus and evidence-based review on nutritional management.
Genereviews - review
British Inherited Metabolic Group (BIMDG) - Emergency treatment
New England Consortium of Metabolic Programs - Emergency treatment
Southeast Regional Genetics Network / GMDI - Emergency treatment
Coughlin et al., 2020 - consensus on the diagnosis and management of pyridoxine-dependent epilepsy due to alpha-aminoadipic semialdehyde dehydrogenase deficiency
Kozycki et al., 2022 - Phenotypic description and report of clinical response to tocilizumab
Yates et al., 2018 - Case series with comprehensive description of the clinical phenotype
Sosicka et al., 2019 - Review of 30 cases with an analysis of prevalence of manifestations
Witters et al., 2020 - Galactose supplementation
Ballout et al., 2022 - Cochrane review on Statins for Smith-Lemli-Opitz syndrome
Svoboda et al., 2012 - Treatment of Smith-Lemli-Opitz syndrome and other sterol disorders
Porter, 2008 - Pathogenesis, diagnosis and management
PCDT, 2022 - Brazilian Public Health System Guidelines
Cartwright, 2021 - Review on the therapeutic options - nusinersen, onasemnogene abeparvovec and risdiplam
Opladen et al., 2020 - International Working Group on Neurotransmitter Related Disorders (iNTD) Consensus Guideline
Häberle et al., 2019 - Review on diagnosis and treatment, including symptomatic management (2012 guideline update)
Southeast Regional Genetics Network / GMDI
Calcad et al., 2020 - Consensus and evidence-based review on nutritional management
Genereviews - Review of diagnosis and treatment.
New England Consortium- Emergency Treatment
Braverman et al., 2016 - Review on diagnosis and treatment, including symptomatic management