Fabiano Poswar

Welcome to my personal website

The content on this website is primarily intended for healthcare professionals caring for patients with genetic disorders.
However, patients, family members, and other interested parties may also find the information provided here helpful.

Fabiano Poswar, MD, PhD

Fabiano is a medical geneticist at Hospital de Clínicas de Porto Alegre (HCPA), Brazil, working in the field of Inborn Errors of Metabolism (IEM). He serves as a clinical provider and preceptor for the Medical Genetics residency program. Currently, he develops collaborative research on the pathophysiology and treatment of genetic diseases, with a focus on IEM, cardiogenetics, and autoinflammatory conditions.

Education and Qualifications

Medical Degree and Masters’s Degree in Health Sciences at the State University of Montes Claros – Unimontes
Medical Residency in Medical Genetics at Hospital de Clínicas de Porto Alegre – HCPA
PhD in Genetics and Molecular Biology from the Federal University of Rio Grande do Sul – UFRGS
Board Certified in Medical Genetics by the Brazilian Society of Medical Genetics and Genomics – SBGM

Professional Activities

Professor of the Graduate Program in Genetics and Molecular Biology at UFRGS
Researcher of the Clinical Research Group in Medical Genetics at HCPA
Associate member of the Latin American Society of Inborn Errors of Metabolism – SLEIMPN.
Full member of SBGM
Member of International Society of Systemic Auto-Inflammatory Diseases – ISSAID
Member of the Society for the Study of Inborn Errors of Metabolism – SSIEM

Management of Genetic Disorders

This section 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 should be used with caution, following the terms of use described by the authors on their website.

Disease/Topic	Guidelines
3-hydroxy-3-methylglutaryl-CoA (HMG-CoA) lyase deficiency	New England Consortium – Emergency Treatment. DDIEM – Drug database. Grunert & Sass, 2020 – Review of published cases and treatments. OMMBID – Review of diagnosis and treatment of ketogenesis disorders.
3-methyl-crotonyl-CoA carboxylase (3MCC) deficiency	New England Consortium – Emergency treatment. Arnold et al., 2008 – International consensus on diagnosis and management.
Achondroplasia	Poskanzer SA et al., 2023 – ACMG guidelines on vosoritide treatment.
Acid Sphingomyelinase Deficiency (ASMD)	Geberhiwot et al., 2023 – International consensus clinical management guidelines. GeneReviews – Point-of-care review on diagnosis and treatment.
Acute Intermittent Porphyria (AIP)	GeneReviews – Clinical summary. Anderson KE, 2019 – Diagnosis and treatment of acute hepatic porphyrias. Stölzel et al., 2019 – Clinical Guide and Update on Porphyrias. Karim et al., 2015 – General review with figures and tables. DDIEM – IEM drug database. Urinary ALA converter – Tool for converting ala from mg/g Cr to mmol/mol Cr.
Aicardi-Goutières syndrome (AGS)	Nash P. et al., 2025 – Expert consensus on Janus Kinase inhibition. Gedik et al., 2022 – Consensus on diagnosis and treatment. Vanderver et al., 2020 – Study of baricitinib in Aicardi-Goutières.
Alagille syndrome	EASL guidelines, 2024 – Management of cholestatic liver diseases. GeneReviews – Clinical overview.
Alpha-1 Antitrypsin Deficiency	Genereviews – Point-of-care review. Loomba et al, 2026 – Consensus on adults with liver disease. Miravitlles et al., 2024 – EARCO group consensus (lung disease). Feitosa et al., 2024 – Recommendations from brazilian experts.
Alpha-mannosidosis	Guffon et al., 2024 – Delphi consensus on management. GeneReviews – Clinical summary.
Aminoacyl t-RNA synthetase defects (ARS)	Verduci et al., 2025 – Evidence-based review of interventions.
Argininosuccinate lyase deficiency (ASA)	SBTEIM – Urea Cycle disorders (Portuguese). BIMDG Paediatric – Emergency Protocol. BIMDG Adult – Emergency Protocol. New England Consortium – Emergency treatment. Baruteau et al., 2019 – Review on pathophysiology and therapy. Frez et al., 2011 – Pathophysiology and diagnosis.
Aromatic L-Amino Acid Decarboxylase (AADC) deficiency	Wassenberg, 2017 – Diagnosis and treatment consensus. DDIEM – Drug database.
ATP6AP1-CDG (CDG-IIs; immunodeficiency 47)	Jansen et al., 2016 – Original description. Nijmegen Pediatric CDG Rating Scale – Online calculator – in portuguese.
BAP1 tumour predisposition syndrome	Lalloo et al., 2023 – Clinical practice guidelines for diagnosis and surveillance.
Beta-ketothiolase deficiency (2-methylacetoacetyl-coenzyme A thiolase deficiency)	Grünert & Sass, 2020 – Review of cases and treatments.
Biotinidase deficiency	Tankeu et al., 2023 – Review of case series and outcomes. Wolf, 2022 – Biotin use in responsive disorders. PCDT, 2018 – Brazilian public health system Guidelines. GeneReviews – Clinical overview.
CANDLE / PRAAS	Sanchez et al., 2018 – Baricitinib use in interferonopathies.
Carnitine Palmitoyltransferase 1A Deficiency (CPT IA)	Genereviews – Point-of-care review.
Cerebrotendinous Xanthomatosis (CTX)	DDIEM – Database of medications for IEM.
Citrullinemia type I	GeneReviews – Practical review. Yuan et al., 2021 – Liver transplant outcomes. E-IMD – Urea Cycle guidelines.
Congenital adrenal hyperplasia (21-hydroxylase)	Speiser et al., 2018 – Endocrine Society Guideline. GeneReviews – Clinical review.
Congenital nephrotic syndrome	Boyer et al., 2021 – recommendations of the ERKNet-ESPN Working Group.
Costeff Syndrome (3-MGA Type 3)	GeneReviews – Review on diagnosis and treatment.
Creatine Deficiency Disorders	GeneReviews – AGAT, GAMT, SLC6A8 summary. Stockler-Ipsiroglu, 2014 – Diagnosis and treatment review.
Deficiency of Adenosine Deaminase 2 (DADA2)	Lee et al., 2023 – International Consensus Statement. GeneReviews – Practical review.
Diamond-Blackfan anemia	Da Costa et al., 2020 – Comprehensive review.
Dravet syndrome	Wirrel et al., 2022 – International consensus.
Fabry disease	PCDT, 2025 – Brazilian national guidelines (agalsidase alfa and beta). Giugliani & Poswar (UpToDate) – Neurological management. Stepien et al., 2023 – UK consensus on pain management. Burlina et al., 2023 – Biomarkers for Fabry. Germain DP et al., 2019 – Consensus recommendations in paediatric patients. GeneReviews – Overview. Cardénas-Aguillera et al, 2026 – Recommendations for pediatric patients MSSI – Mainz Severity Score Index – Online calculator (portuguese). DS3 – Online calculator (portuguese). Lyso-Gb3 – Online converter from ng/mL to nmol/L (portuguese)..
Free sialic acid storage disease	GeneReviews – Review of diagnosis and treatment.
Galactosemia I (GALT)	GeneReviews – Review. Genereviews – Review of Duarte Galactosemia.
Galactosemia II (GALK)	Rubio-Gozalbo et al., 2021 – Clinical description of 53 patients.
Gaucher disease	PCDT, 2025 – Brazilian Government guidelines. Camou F et al., 2025 – French National Guidelines. Kishnani et al., 2021 – International Delphi consensus. Biegstraaten M et al., 2018 – Therapeutic goals.
GLUT1 deficiency	Keppler et al., 2020 – Recommendations from the International Study Group. Tang et al., 2019 – Therapeutic strategies review.
Glutaric aciduria type 1 (GA1)	SBTEIM – Brazilian Emergency Protocol. Boy et al., 2022 – Revised international guidelines. BIMDG Paediatric – Emergency Protocol. BIMDG Adult – Emergency Protocol. Filière G2M – Emergency Protocol. GeneReviews – Clinical summary.
Glycogen Storage Disease type IA/IB (GSD IA and GSD IB)	Derks. et al., 2025 – Consensus statement on continuous glucose monitoring. Grünert et al., 2024 – Guidelines on empagliflozin treatment for GSD Ib. Weinstein et al., 2024 – Glyde study on extended release cornstarch. Kishnani et al., 2014 – ACMG Guidelines.
Glycogen Storage Disease type III (GSD III)	Derks. et al., 2025 – Consensus on glucose monitoring. Kishnani et al., 2010 – ACMG Guidelines. GeneReviews – Practical review.
Glycogen Storage Disease type IV (GSD IV)	Koch et al., 2023 – AGSD Guidelines (USA). GeneReviews – Review.
Glycogen Storage Disease Type V and VII (GSD V – McArdle Disease and GSD VII – Tarui Disease)	Lucia et al., 2021 – Treatment and monitoring guidelines.
Glycogen Storage Disease type VI and IX (GSD VI and GSD IX)	Derks. et al., 2025 – Consensus on glucose monitoring. Kishnani et al., 2019 – Management review.
GM1 gangliosidosis	Genereviews – Point-of care review.
Hereditary Fructose intolerance (HFI)	Filière G2M – Emergency protocol. Genereviews – Point-of-care review. Úbeda et al., 2022 – Clinical Practice Guidelines (University of Zaragoza).
Homocystinuria, Classic	PCDT, 2018 – Brazilian public health system Guidelines. Morris et al., 2016 – Management guidelines.
Hypermanganesaemia With Dystonia 1 and 2	Fang et al., 2025 – Consensus of Expert Opinion.
Isolated Methylmalonic Acidemia	Forny et al., 2021 – European guidelines. Haijes et al., 2019 – Review of treatment strategies. BIMDG Paediatric – Emergency Protocol. GeneReviews – Diagnosis and treatment review.
Isolated sulfite oxidase deficiency and molybdenum cofactor deficiencies	Schwahn et al., 2024
Isovaleric Acidemia (IVA)	BIMDG – Emergency treatment. New England Consortium – Emergency treatment. DDIEM – Drug references.
Ketogenic Diet	Kossoff et al., 2018 – International Study Group guidelines. van der Louw et al, 2016 – Guidelines for infants.
Maple Syrup Urine Disease (MSUD)	SBTEIM – Brazilian Emergency Protocol. Rodan et al., 2018 – Boston Children’s Hospital Protocol. BIMDG Paediatric – Emergency Protocol. Strauss et al., 2020 – CSC Guidelines. SERN/GMDI Guidelines – Nutrition Management Guidelines.
Metachromatic leukodystrophy	Gangji et al, 2025 – ACMG guidelines on atidarsagene autotemcel.
Methylmalonic acidemia with homocystinuria (CblC, D, F, J)	Huemer et al., 2016 – E-HOD guidelines. Kacpura et al., 2022 – High dose hydroxocobalamin study.
Mitochondrial diseases	Tinker et al., 2021 – Current and development treatments. Parick et al., 2017 – Consensus on primary mitochondrial care. Barcelos et al., 2020 -Useful review on mitochondrial medicine therapies.
Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS)	El-Hattab, 2015 – Clinical review.
Mucopolysaccharidosis type I – MPS I	Kubaski et al., 2020– Review on diagnosis and treatment PCDT, 2025 -Brazilian Public Health System Guidelines (Portuguese) Genereviews
Mucopolysaccharidosis type IVA – MPS IVA	PCDT, 2020 -Brazilian Public Health System Guidelines (Portuguese) Akyol et al., 2019 – Consensus-based guidance.
Mucopolysaccharidosis type VI – MPS VI	Akyol et al., 2019 – Consensus-based guidance.
Multiple acyl-CoA dehydrogenases deficiency (MADD)	GeneReviews – Practical review.
Neuronal ceroid lipofuscinosis type 2 (CLN2)	PCDT, 2023 – Brazilian Public Health Guidelines. Mole et al., 2021 – International Guidelines. Sampaio et al., 2023 – Brazilian experts consensus. CLN2 Clinical Rating Scale (Motor and Language) – Online calculator (portuguese).
NGLY1-CDDG	Stancliff et al. 2022 – Phenotypic data of 34 patients. GeneReviews – Review on NGLY1-related disorders. Nijmegen Pediatric CDG Rating Scale – Online calculator – in portuguese.
Niemann Pick disease type C (NPC)	PCDT, 2024 – Brazilian guidelines. Evans et al., 2021 – Severity scale consensus. Geberhiwot et al., 2018 – Management guidelines. Niemann-Pick type C Clinical Severity Scale (5 Domains) – Online calculator (portuguese)..
Ornithine transcarbamylase (OTC) deficiency	SBTEIM – Brazilian Urea Cycle protocols. BIMDG Paediatric – Emergency Protocol. BIMDG Adult – Emergency Protocol. New England Consortium – Emergency treatment. Filière G2M – Hyperammonaemia Protocol (English). Genereviews – Point-of-care review on diagnosis and treatment..
PGM1-CDG (CDG It / Glycogen Storage Disease GSD XIV)	Altassan R et al., 2021 – Diagnosis and treatment guidelines. Nijmegen Pediatric CDG Rating Scale – Online calculator – in portuguese.	Smith et al., 2023 – ACMG Guidelines.
Phenylketonuria (PKU)	Wegberg et al., 2025 – European Guidelines. Smith et al., 2023 – ACMG Guidelines. Spronsen, et al., 2021 – Nature Review Primer. SERN/GMDI Guidelines – Nutrition Management Guidelines. PCDT, 2020 – Brazilian Public Health Guidelines. Genereviews – Point-of-care review. Phe and Tyr Calculator – tool for converting from mmol/L to mg/dl (in portuguese).
Pompe disease	Schoser et al., 2024 – European Pompe Consortium recommendations. Kishnani, 2006 – ACMG recommendations.
Propionic Acidemia	Forny et al., 2021 – European guidelines. SBTEIM – Brazilian Emergency Protocol. BIMDG Paediatric – Emergency Protocol. Filière G2M – Emergency Protocol. SERN/GMDI Guidelines – Nutrition Management Guidelines.
Pyruvate Kinase	Luke et al., 2023 – Treatment and mitapivat indications. UpToDate – Clinical summary.
Riboflavin Transporter Deficiency	GeneReviews – BVVL and Fazio-Londe syndromes.
SCARB2-Related Action Myoclonus – Renal Failure Syndrome	Genereviews – Review on diagnosis and symptomatic treatment. Colucci et al., 2024 – Case report of miglustat treatment with review of previous cases. Scale for the assessment and rating of ataxia (SARA) – Online calculator (with portuguese output).
Single Large-Scale Mitochondrial DNA Deletion Syndromes (Kearns-Sayre syndrome, Pearson syndrome, chronic progressive external ophthalmoplegia (CPEO), CPEO-plus)	Genereviews – Point-of-care review.
SLC39A8-CDG (CDG-IIn)	Genereviews – point-of-care review. Park et al., 2018 – Original study on manganese supplementation. Nijmegen Pediatric CDG Rating Scale – Online calculator – in portuguese.
Smith-Lemli-Opitz Syndrome (SLOS)	Ballout et al., 2022 – Cochrane review on Statins for SLOS. Svoboda et al., 2012 – Treatment of sterol disorders. Porter, 2008 – Pathogenesis and management review.
Tyrosinemia type 1 (T1 / Fumarylacetoacetase Deficiency, Fumarylacetoacetate Hydrolase Deficiency)	Genereviews – Point-of-care review.
Urea Cycle Disorders	Häberle et al., 2019 – Updated guidelines for diagnosis and treatment.
Vacuoles E1 enzyme X-linked syndrome (VEXAS)	Mekinian et al., 2025 – International Working Group guidelines. GeneReviews – Clinical summary.
Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency (VLCAD) Deficiency	Calcad et al., 2020 – Consensus on nutritional management. SBTEIM – Beta-oxidation defects (Portuguese). BIMDG Paediatric – Emergency Protocol. SERN/GMDI Guidelines – Nutrition Management Guidelines.
Wilson Disease	EASL, 2025 – EASL-ERN Practice Guidelines. Schilsky et al., 2025 – AASLD approach. PCDT, 2018 – Brazilian Government guidelines.
Wolfram Syndrome	Frontino et al., 2025 – SID/SIEDP expert consensus. Genereviews – Point-of-care review.
Zellweger spectrum disorders	Braverman et al., 2016 – Review on diagnosis and symptomatic treatment.

Diagnosis of Genetic Disorders

This section provides resources for the clinical investigation of genetic disorders. These references are curated for physicians and healthcare professionals. Diagnostic flowcharts should be used with caution, as disease prevalence can vary between populations. Some articles may require a subscription or institutional access.

Disease/Topic	Links
Aortopathy and Aortic Dissection	Caruana et al. 2022 – HARD working group research recommendations. Richer & Laberge, 2016 – Review on testing for aortopathies in children.
Autoinflammatory diseases and periodic fever	Hashkes et al., 2019 – Clinical approach to diagnosis. Gaggiano et al., 2019 – Autoinflammatory disorders in adults. Almeida de Jesus et al., 2013 – Categories for classical autoinflammatory disorders.
Autism Spectrum Disorders	Schaefer, 2013 – ACMG recommendations for genetic evaluation.
Cardiomyopathies	Hershberger et al., 2018 – ACMG Guidelines. Valentini et al., 2022 – Value of low QRS voltages. Monda E et al., 2021 – Non-sarcomeric causes of HCM in children. Reid AB et al., 2021 – Findings in MELAS and Fabry. GAMUTS – Metabolic causes of cardiovascular phenotypes.
Developmental delay / Intellectual disability	Zubler et al., 2022 – Revised evidence-based milestones. ACMG, 2020 – Genomic sequencing review. Mithyantha et al., 2017 – Investigating global developmental delay. Treatable-ID – Tool for searching treatable ID causes.
Dystonia	Forman et al., 2020 – Review of genetic causes in children. GAMUTS – Metabolic causes of movement disorders.
Elevated 7-dehydrocholesterol	der Velden et al. 2008 – CTX with elevated 7-DHC. Gillespie et al., 2014 – Mild elevations in CYP51A1. Witsch-Baumgartner et al., 2000 – 7-DHC levels and SLOS severity.
Abnormal levels of acylcarnitines	Ingoglia et al., 2024 – MADD pattern and sertraline use. Rinaldo et al., 2004 – Patterns associated with disease states. Vianey-Saban et al, 2023 – Patterns of acylcarnitines for FAODs described in table 2.
Elevated glycosaminoglycans (GAGs)	Maccari et al., 2003 – Heparan sulfate in Pseudoxanthoma elasticum. Schmidt et al., 2016 – Elevation of GAGs in septic shock. Thompson J.N., 2003 – Flowchart for conditions with clinical impression of MPS.
Elevated methylmalonic acid	Keyfi et al., 2016 – Differential diagnosis of MMAs.
Chronic Kidney Disease / Glomerular Diseases	Freedman & Cohen, 2015 – APOL1 vs hypertension-attributed nephropathy. Vairo FP et al., 2020 – Nail-patella syndrome as cause of FSGS. Vivante A., 2024 – Genetics of Chronic Kidney Disease.
Hyperinsulinism, syndromic	Zenker et al., 2023 – Review of causes.

Genetic Counseling

This section lists resources and recommendations on genetic counseling and the interpretation of specialized genetic and biochemical tests.

Disease/Topic	Counseling Resources
Genetic testing guidelines	Miller et al., 2023 – ACMG recommendations on secondary findings (v3.2). ACMG, 2022 – Structural variants by NGS. Deans et al., 2022 – ESHG Guidelines on test reports. SBGM, 2020 – Statement on genetic tests (Portuguese). ACGS – UK Best Practice Guidelines.
Genetic variant databases	gnomAD – Population frequency database. ClinVar – Pathogenicity interpretations. DGV – Database of Genomic Variants.
Variant Classification Criteria	Pejaver et al., 2022 – ClinGen PP3/BP4 recommendations. Houge et al., 2022 – ABC variant classification system. Richards et al., 2015 – ACMG/AMP criteria. ClinGen – Specific criteria for various diseases.
Biochemical Test Interpretation	HMDB – Human Metabolome Database. IEM Base – Search by symptoms or metabolites. Metagene – Includes non-genetic metabolic causes.

Education and Qualifications

Professional Activities

Management of Genetic Disorders

Diagnosis of Genetic Disorders

Genetic Counseling

My publications