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.
Abetalipoproteinemia	DDIEM – Database of medications for IEM.
Aceruloplasminemia	DDIEM – Database of medications for IEM.
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.
Acrodermatitis Enteropathica	DDIEM – Database of medications for IEM.
Acute Intermittent Porphyria (AIP)	GeneReviews – Clinical summary. Edel et al., 2026 – Guidelines on acute porphyria. 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.
Adenine Phosphoribosyltransferase Deficiency	DDIEM – Database of medications for IEM.
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.
Alkaptonuria	DDIEM – Database of medications for IEM.
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. DDIEM – Database of medications for IEM.
Alpha-mannosidosis	Guffon et al., 2024 – Delphi consensus on management. GeneReviews – Clinical summary.
Alpha-methylacetoacetic aciduria	DDIEM – Database of medications for IEM.
Aminoacyl t-RNA synthetase defects (ARS)	Verduci et al., 2025 – Evidence-based review of interventions.
Arginase deficiency	BIMDG Paediatric – Emergency Protocol.
Argininemia	DDIEM – Database of medications for IEM.
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. DDIEM – Database of medications for IEM.
Aromatic L-Amino Acid Decarboxylase (AADC) deficiency	Wassenberg, 2017 – Diagnosis and treatment consensus. DDIEM – Drug database.
Aspartylglucosaminuria	DDIEM – Database of medications for IEM.
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.
Barth syndrome	DDIEM – Database of medications for IEM.
Beta-ketothiolase deficiency (2-methylacetoacetyl-coenzyme A thiolase deficiency, T2 deficiency)	BIMDG Paediatric – Emergency Protocol. 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. DDIEM – Database of medications for IEM. GeneReviews – Clinical overview.
CANDLE / PRAAS	Sanchez et al., 2018 – Baricitinib use in interferonopathies.
Carbamoyl Phosphate Synthetase Deficiency (CPS deficiency)	BIMDG Paediatric – Emergency Protocol. DDIEM – Database of medications for IEM.
Carnitine Acylcarnitine Translocase Deficiency (CACT deficiency)	BIMDG Paediatric – Emergency Protocol.
Carnitine Palmitoyl Transferase 1A Deficiency (CPT IA)	BIMDG Paediatric – Emergency Protocol. Genereviews – Point-of-care review.
Carnitine Palmitoyl Transferase 2 Deficiency (CPT2)	BIMDG Paediatric – Emergency Protocol.
Carnitine Transporter Deficiency (OCTN2, CTD, Carnitine)	DDIEM – Database of medications for IEM.
Cerebrotendinous Xanthomatosis (CTX)	DDIEM – Database of medications for IEM.
Citrin deficiency (Citrullinaemia Type II)	BIMDG Paediatric – A&E.
Citrullinemia type I	BIMDG Paediatric – Emergency Protocol. 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.
Familial hypercholesterolemia	Ahmad et al., 2026 – National Lipid Association 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.
Fructose-1,6-biphosphatase deficiency	BIMDG Paediatric – Emergency Protocol.
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. Calderón et al., 2025 – Pregnancy management.
Glucose transporter deficiency (GLUT1 deficiency; GLUT1-DS)	Keppler et al., 2020 – Recommendations from the International Study Group. Tang et al., 2019 – Therapeutic strategies review. BIMDG Paediatric – Emergency Protocol.
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.
Glycerol Kinase Deficiency	BIMDG Paediatric – Emergency Protocol.
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.
GRIN-related disorders (GRIN1, GRIN2A, GRIN2B, GRIND)	Genereviews (GRIN1) – Point-of-care review. Genereviews (GRIN2A) – Point of care review. Genereviews (GRIN2B) – Point of care review. Genereviews (GRIN2D) – Point of care review. GRIN Portal – Repository of functional classification of GRIN variants.
Hereditary Corpoporphyria (HCP)	Genereviews – Point-of-care review. Edel et al., 2026 – Guidelines on acute porphyria.
Hereditary Fructose intolerance (HFI)	Filière G2M – Emergency protocol. Genereviews – Point-of-care review. Úbeda et al., 2022 – Clinical Practice Guidelines (University of Zaragoza).
HHH syndrome (Triple H Syndrome, Hyperammonaemia, Hyperornithinaemia, Homocitrullinuria)	BIMDG Paediatric – Emergency Protocol. BIMDG Adult – Oral.
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.
Leber hereditary optic neuropathy (LHON)	DDIEM – Database of medications for IEM.
Lowe Oculocerebrorenal syndrome	DDIEM – Database of medications for IEM.
Maple Syrup Urine Disease (MSUD)	SBTEIM – Brazilian Emergency Protocol. Rodan et al., 2018 – Boston Children’s Hospital Protocol. BIMDG Paediatric – Emergency Protocol. Rostampour et al., 2025 – Iranian Guidelines. Strauss et al., 2020 – CSC Guidelines. SERN/GMDI Guidelines – Nutrition Management Guidelines.
Metachromatic leukodystrophy	Gangji et al, 2025 – ACMG guidelines on atidarsagene autotemcel. Adang et al., 2024 – U.S consensus guidelines.
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.
Nephropathic Cystinosis	Hohenfellner et al., 2026 – Clinical practice recommendations. Genereviews – point-of-care 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).
Neuronal ceroid lipofuscinosis type 3 (CLN3)	Mink et al., 2026 – Delphi consensus.
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. Hiwot et al., 2026 – Management guidelines.. Niemann-Pick type C Clinical Severity Scale (5 Domains) – Online calculator (portuguese). Scale for the assessment and rating of ataxia (SARA) – Online calculator (with portuguese output).
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.
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).
SCN1A Seizure Disorders (Dravet syndrome, febrile seizures and generalized epilepsy with febrile seizures plus (GEFS+), intractable childhood epilepsy with generalized tonic-clonic seizures (ICE-GTC))	Wirrel et al., 2022 – International consensus. SCN1A -Epilepsy Prediction Model – a model to calculate the probability of developing Dravet syndrome versus genetic epilepsy with febrile seizures plus (GEFS+) based on a given SCN1A variant and the age of seizure onset.
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.
Succinyl CoA Transferase (SCOT) deficiency	BIMDG Paediatric – Emergency Protocol.
Tyrosine Hydroxylase Deficiency	Bondarenko et al., 2025 – Consensus guidelines.
Tyrosinemia type 1 (T1 / Fumarylacetoacetase Deficiency, Fumarylacetoacetate Hydrolase Deficiency)	Genereviews – Point-of-care review. Das et al., 2025 – Consensus of German-speaking countries.
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. Groarke et al., 2026 – Comprehensive review.
Variegate Porphyria (VP)	Genereviews – Point-of-care reviews. Edel et al., 2026 – Guidelines on acute porphyria. Urinary ALA converter – Tool for converting ala from mg/g Cr to mmol/mol Cr.
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.
X-linked Adrenoleukodystrophy	Engelen et al., 2022 – Consensus. DDIEM – Database of medications for IEM.
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
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. Aukes et al., 2025 – Abnormal C5-OH.
Aortopathy and Aortic Dissection	Caruana et al. 2022 – HARD working group research recommendations. Richer & Laberge, 2016 – Review on testing for aortopathies in children.
Psychiatric manifestations (Autism Spectrum Disorders, ADHD, anxiety, psychosis)	Schaefer, 2013 – ACMG recommendations for genetic evaluation on autism. Horvath et al., 2020 – footprints of inherited metabolic diseases.
Immunological defects (Autoinflammation, autoimmunity, abnormal cell counts)	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. de Boer et al., 2023 – footprints of inherited metabolic diseases.
Cardiovascular disese (Cardiomyopathies, arrhythmias, valvulopathy, vasculopathy)	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. Ferreira et al., 2021 – footprints of inherited metabolic diseases.
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. Schumann et al., 2023 – footprints of inherited metabolic diseases.
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.
Developmental regression / Childhood Dementia	Furley et al., 2025 – Delphi consensus.
Suspetcted congenital disorders of glycosylation	ACMG, 2025 – Guidelines on tests for CDG.
Movement Disorders (ataxia, dystonia, myoclonus and parkinsonism)	Forman et al., 2020 – Review of genetic causes in children. GAMUTS – Metabolic causes of movement disorders. Peacock et al., 2025 – footprints of inherited metabolic diseases (updated).
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.
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. Auray-Blais et al., 2016 – Table 7 presents abnormal GAG levels patterns in other LSD.
Elevated methylmalonic acid	Keyfi et al., 2016 – Differential diagnosis of MMAs.
Hyperinsulinism, syndromic	Zenker et al., 2023 – Review of causes.
Low uric acid / hypouricemia	Pineda et al., 2020 – Narrative review.
Hypoglycemia	Rossi et al., 2026 – footprints of inherited metabolic diseases.
Gastrointestinal symptoms	Peacock et al., 2025 – footprints of inherited metabolic diseases.
Myopathy	Angelini et al., 2022 – footprints of inherited metabolic diseases.
Ocular phenotypes	Garanto et al., 2022 – footprints of inherited metabolic diseases.
Dysmorphisms	Greene et al., 2025 – footprints of inherited metabolic diseases.
Epilepsy	Latzer et al., 2023 – footprints of inherited metabolic diseases.
Neoplasias	Jerves et al., 2022 – footprints of inherited metabolic diseases.
Cerebral palsy mimics	Horvath et al., 2022 – footprints of inherited metabolic diseases.
Respiratory manifestations (respiratory failure, restrictive lung disease, interstitial lung disease, lower airway disease, apnea, pulmonary hypertension, pulmonary edema, dyspnea)	Rossi et al., 2023 – footprints of inherited metabolic diseases.
Skin manifestations (vascular lesions, ichthyosis, papular and nodular skin lesions, abnormal pigmentation, photosensitivity, skin laxity, hair disorders, and nail abnormalities).	Ferreira et al., 2021 – footprints of inherited metabolic diseases.
Ear disease (congenital external ear abnormalities, acquired external ear abnormalities, middle ear involvement, inner ear or retrocochlear involvement, hearing loss)	Backos et al., 2022 – footprints of inherited metabolic diseases.
Liver disease (hepatomegaly, acute liver failure, cirrhosis or cholestasis)	Ferreira et al., 2019 – footprints of inherited metabolic diseases.

Clinical resources

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

Topic	Clinical resources
Biochemical Test Interpretation	HMDB – Human Metabolome Database. IEM Base – Search by symptoms or metabolites. Metagene – Includes non-genetic metabolic causes.
Genetic variant databases	gnomAD – Population frequency database. ClinVar – Pathogenicity interpretations. DGV – Database of Genomic Variants.
Guidelines for Genetic Testing Eligibility	ACMG, 2019 – ACMG statement that secondary findings guidance is not population screening. DUTS-ANS, 2025 – Brazilian health insurance coverage policy.
Guidelines for the Conduct and Reporting of Genetic Testing	Lee et al., 2025 – ACMG recommendations on secondary findings (v3.3). ACMG, 2022 – Points to consider: 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. Chao et al., 2021 – Points to consider: acquired variants in germline testing.
Rare Disease Search	FindZebra – Rare disease search, includes deep search with LLM technology.
Tools for patient education	Genomics ADvISER – Tool for informed choice on incidental findings.
Treatment Databases	Treatabolome – database of IMDs and their amenability to pharmacological, nutritional, or other interventions. Treatable-Id – Treatable inborn errors of metabolism (IEMs) that cause cognitive or developmental issues.. RX Genes – Genetic conditions where a targeted treatment alters the natural history of the disease.
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.
Research tools	Citation generator (AMA) Citation generator tool from this site, optimized for presentations.
Phenotyping	Fabiano Poswar Growth calculator – Simplified growth calculator using CDC, WHO and Nellhaus (in portuguese). Face2Gene – A phenotyping platform that uses AI-driven facial analysis to assist clinicians in evaluating rare genetic disorders..
Pedigree	Open Pedigree XML (from this website) – Online pedigree editor, adapted from Open Pedigree. Allows to export and import from Invitae Family History Tool. Invitae Family History Tool – A clinical tool enabling providers to collect, host, and update a patient’s family health history..

Education and Qualifications

Professional Activities

Management of Genetic Disorders

Diagnosis of Genetic Disorders

Clinical resources

My publications