inborn error of metabolism
HP:0001939 · SaudiVarKB evidence summary derived from retained literature mentions.
95Phenotype mentions
95Publications
35Associated gene records
40Associated variant records
Associated gene records
Co-mentioned in the same publications| Gene | Identifier / context | Articles | Mentions |
|---|---|---|---|
| PAH | HGNC:8582 | 2 | 2 |
| SLC3A1 | HGNC:11025 | 2 | 2 |
| SLC7A9 | HGNC:11067 | 2 | 2 |
| ACADVL | HGNC:92 | 1 | 1 |
| SGPL1 | HGNC:10817 | 1 | 1 |
| ALPL | HGNC:438 | 1 | 1 |
| ALDH4A1 | HGNC:406 | 1 | 1 |
| SLC27A3 | HGNC:10997 | 1 | 1 |
| CBS | HGNC:1550 | 1 | 1 |
| PGM1 | HGNC:8905 | 1 | 1 |
| AGXT | HGNC:341 | 1 | 1 |
| LDLR | HGNC:6547 | 1 | 1 |
| SPAST | HGNC:11233 | 1 | 1 |
| STS | HGNC:11425 | 1 | 1 |
| CA2 | HGNC:1373 | 1 | 1 |
| SERAC1 | HGNC:21061 | 1 | 1 |
| GAMT | HGNC:4136 | 1 | 1 |
| IVD | HGNC:6186 | 1 | 1 |
| OXCT1 | HGNC:8527 | 1 | 1 |
| BCKDHA | HGNC:986 | 1 | 1 |
| BCKDHB | HGNC:987 | 1 | 1 |
| DBT | HGNC:2698 | 1 | 1 |
| IDUA | HGNC:5391 | 1 | 1 |
| NAGS | HGNC:17996 | 1 | 1 |
| SRD5A2 | HGNC:11285 | 1 | 1 |
| PCCA | HGNC:8653 | 1 | 1 |
| COG6 | HGNC:18621 | 1 | 1 |
| DLD | HGNC:2898 | 1 | 1 |
| GLDC | HGNC:4313 | 1 | 1 |
| SLC9A7 | HGNC:17123 | 1 | 1 |
| ALDH5A1 | HGNC:408 | 1 | 1 |
| OPLAH | HGNC:8149 | 1 | 1 |
| ASNS | HGNC:753 | 1 | 1 |
| GCDH | HGNC:4189 | 1 | 1 |
| UROS | HGNC:12592 | 1 | 1 |
Associated variant records
Co-mentioned in the same publications| Variant | Identifier / context | Articles | Mentions |
|---|---|---|---|
| c.293C>T | c.293C>T | 1 | 1 |
| p.Ser98Phe | p.Ser98Phe | 1 | 1 |
| c.977G>T | c.977G>T | 1 | 1 |
| p.Gly326Val | p.Gly326Val | 1 | 1 |
| c.283dupG | c.283dupG | 1 | 1 |
| R222Q | R222Q | 1 | 1 |
| c.169_171del | c.169_171del | 1 | 1 |
| p.C231* | p.C231* | 1 | 1 |
| p.R744* | p.R744* | 1 | 1 |
| p.Arg50Pro | p.Arg50Pro | 1 | 1 |
| p.Met329Thr | p.Met329Thr | 1 | 1 |
| p.Arg337Gln | p.Arg337Gln | 1 | 1 |
| p.Ala311Val | p.Ala311Val | 1 | 1 |
| p.Thr236Ile | p.Thr236Ile | 1 | 1 |
| p.Arg411Gln | p.Arg411Gln | 1 | 1 |
| p.Val174Gly | p.Val174Gly | 1 | 1 |
| p.Met467Lys | p.Met467Lys | 1 | 1 |
| p.L303P | p.L303P | 1 | 1 |
| p.L490P | p.L490P | 1 | 1 |
| c.784delC | c.784delC | 1 | 1 |
| p.H262Tfs | p.H262Tfs | 1 | 1 |
| p.P533R | p.P533R | 1 | 1 |
| p.R105Q | p.R105Q | 1 | 1 |
| c.425G>A | c.425G>A | 1 | 1 |
| c.2963G>A | c.2963G>A | 1 | 1 |
| p.Cys571Ser | p.Cys571Ser | 1 | 1 |
| p.Thr389Met | p.Thr389Met | 1 | 1 |
| p.Met467Lys | p.Met467Lys | 1 | 1 |
| c.608C>T | c.608C>T | 1 | 1 |
| p.Pro203Leu | p.Pro203Leu | 1 | 1 |
| p.R161Q | p.R161Q | 1 | 1 |
| T19A | T19A | 1 | 1 |
| N38Y | N38Y | 1 | 1 |
| D62H | D62H | 1 | 1 |
| p.R468C | p.R468C | 1 | 1 |
| c.438delC | c.438delC | 1 | 1 |
| p.T147Rfs | p.T147Rfs | 1 | 1 |
| c.442C>T | c.442C>T | 1 | 1 |
| p.R148X | p.R148X | 1 | 1 |
| c.793del | c.793del | 1 | 1 |
Associated population records
Co-mentioned in the same publications| Population | Identifier / context | Articles | Mentions |
|---|---|---|---|
| Saudi Arabia | — | 13 | 13 |
| Population record | — | 4 | 4 |
| Saudi Arabia | — | 3 | 3 |
| Saudi Arabia | Cohort 0 | 2 | 2 |
| Saudi Arabia | Cohort 500 | 2 | 2 |
| Population record | Cohort 17 | 1 | 1 |
| Population record | Cohort 14 | 1 | 1 |
| Saudi Arabia | Cohort 19 | 1 | 1 |
| Population record | Cohort 47 | 1 | 1 |
| Population record | Cohort 26 | 1 | 1 |
| Population record | Cohort 50 | 1 | 1 |
| Asir | — | 1 | 1 |
| Population record | Cohort 8 | 1 | 1 |
| Population record | Cohort 12 | 1 | 1 |
| Saudi Arabia · Riyadh | Cohort 40,965 | 1 | 1 |
| Population record | Cohort 76 | 1 | 1 |
| Population record | Cohort 25 | 1 | 1 |
| Saudi Arabia | Cohort 14 | 1 | 1 |
| Saudi Arabia · Jeddah | Cohort 29 | 1 | 1 |
| Saudi Arabia | Cohort 201 | 1 | 1 |
| Saudi Arabia | Cohort 53 | 1 | 1 |
| Saudi Arabia | Cohort 23 | 1 | 1 |
| Population record | Cohort 226 | 1 | 1 |
| Population record | Cohort 126 | 1 | 1 |
| Saudi Arabia | Cohort 52 | 1 | 1 |
| Population record | Cohort 85 | 1 | 1 |
| Population record | Cohort 794 | 1 | 1 |
| Saudi Arabia | Cohort 182 | 1 | 1 |
| Saudi Arabia · Riyadh | Cohort 187 | 1 | 1 |
| Saudi Arabia · Eastern Province | — | 1 | 1 |
| Saudi Arabia · Eastern Province | Cohort 530 | 1 | 1 |
| Population record | Cohort 82 | 1 | 1 |
| Population record | Cohort 34 | 1 | 1 |
Supporting publications
95 records- 2026Homocystinuria: Advances in metabolic and molecular therapies targeting homocysteine pathways (Review).Molecular medicine reports1 mentions
- 2026Loss-of-function variant of SLC27A3 causes mitochondrial dysfunction and a metabolic neurodevelopmental disorder via impaired fatty acid transport.Journal of human genetics1 mentions
- 2026Structural insights into mutated human phosphoglucomutase 1 (PGM1) using computational approaches.Journal of biomolecular structure & dynamics1 mentions
- 2025Hidden in CAKUT: Post-Transplant Diagnosis of Primary Hyperoxaluria Type 1 and Rescue Management Using Lumasiran.Pediatric transplantation1 mentions
- 2025Nutritional management of metabolic disorders in neonates and infants in Saudi Arabia: consensus recommendations.Orphanet journal of rare diseases1 mentions
- 2025Case Report: Hyperprolinemia type II in a child with autism spectrum disorder and ALDH4A1 gene variant in a consanguineous family.Frontiers in pediatrics1 mentions
- 2025Phenotype and genotype of hypophosphatasia cases in Saudi Arabia: multi-center case cohort.Frontiers in genetics1 mentions
- 2024Kidney Replacement Therapy and Mortality in Children With Inborn Errors of Metabolism: A Meta-analysis.Kidney medicine1 mentions
- 2024Carbonic Anhydrase II Deficiency: Unusual Presentation of the Arabic Mutation. A Case Report.Global pediatric health1 mentions
- 2024First successful outcomes of pegvaliase (PALYNZIQ) in children.BMC medical genomics1 mentions
- 2024Phenotypic and Molecular Spectrum of Guanidinoacetate N-Methyltransferase Deficiency: An Analytical Study of a Case Series and a Scoping Review of 53 Cases of Guanidinoacetate N-Methyltransferase.Journal of microscopy and ultrastructure1 mentions
- 2024Factors influencing survival in sphingosine phosphate lyase insufficiency syndrome: a retrospective cross-sectional natural history study of 76 patients.Orphanet journal of rare diseases1 mentions
- 2024Incidence of Inborn Errors of Metabolism and Endocrine Disorders Among 40965 Newborn Infants at Riyadh Second Health Cluster of the Ministry of Health Saudi Arabia.International journal of neonatal screening1 mentions
- 2023Identification and functional characterization of two rare LDLR stop gain variants (p.C231* and p.R744*) in Saudi familial hypercholesterolemia patients.Panminerva medica1 mentions
- 2023Chances of Liver Transplantation in a Patient With Transaldolase Deficiency Complicated by Hepatopulmonary Syndrome.Cureus1 mentions
- 2023A Distinctive Metabolomics Profile and Potential Biomarkers for Very Long Acylcarnitine Dehydrogenase Deficiency (VLCADD) Diagnosis in Newborns.Metabolites1 mentions
- 2023Recent advances in neurometabolic diseases: The genetic role in the modern era.Epilepsy & behavior : E&B1 mentions
- 2023Classical phenylketonuria presenting as maternal PKU syndrome in the offspring of an intellectually normal woman.JIMD reports1 mentions
- 2023Elevated Erythritol: A Marker of Metabolic Dysregulation or Contributor to the Pathogenesis of Cardiometabolic Disease?Nutrients1 mentions
- 2023Incidence of Inborn Errors of Metabolism in Newborn Infants: Five Years' Single-Center Experience, Jeddah, Saudi Arabia.Clinical pediatrics1 mentions
- 2022Determining ideal balance among branched-chain amino acids in medical formula for Propionic Acidemia: A proof of concept study in healthy children.Molecular genetics and metabolism1 mentions
- 2022Insights into National Laboratory Newborn Screening and Future Prospects.Medicina (Kaunas, Lithuania)1 mentions
- 2022Cut-off values in newborn screening for inborn errors of metabolism in Saudi Arabia.Annals of Saudi medicine1 mentions
- 2022Clinical Profile, Outcomes, and Complications in Neonates Undergoing Peritoneal Dialysis in a Tertiary Neonatal Care Unit - An Observational Study.Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia1 mentions
- 2021The first Saudi baby with classic homocystinuria diagnosed by universal newborn screening.Saudi medical journal1 mentions
- 2021Treatable inherited metabolic epilepsies.Neurosciences (Riyadh, Saudi Arabia)1 mentions
- 2021Characterization of variants of uncertain significance in isovaleryl-CoA dehydrogenase identified through newborn screening: An approach for faster analysis.Molecular genetics and metabolism1 mentions
- 2021Long-term effectiveness of carglumic acid in patients with propionic acidemia (PA) and methylmalonic acidemia (MMA): a randomized clinical trial.Orphanet journal of rare diseases1 mentions
- 2021Clinical variability and outcome of succinyl-CoA:3-ketoacid CoA transferase deficiency caused by a single OXCT1 mutation: Report of 17 cases.JIMD reports1 mentions
- 2020The Spectrum of Mutations of Homocystinuria in the MENA Region.Genes1 mentions
- 2020Clinical Characterization of 2 Siblings with a Homozygous SPAST Variant.The American journal of case reports1 mentions
- 2020Clinical Validation of Targeted and Untargeted Metabolomics Testing for Genetic Disorders: A 3 Year Comparative Study.Scientific reports1 mentions
- 2020DDIEM: drug database for inborn errors of metabolism.Orphanet journal of rare diseases1 mentions
- 2020Targeted Metabolomic Profiling of Total Fatty Acids in Human Plasma by Liquid Chromatography-Tandem Mass Spectrometry.Metabolites1 mentions
- 2020Diversity of Phenotype and Genetic Etiology of 23 Cystinuria Saudi Patients: A Retrospective Study.Frontiers in pediatrics1 mentions
- 2019Evaluation of long-term effectiveness of the use of carglumic acid in patients with propionic acidemia (PA) or methylmalonic acidemia (MMA): study protocol for a randomized controlled trial.BMC pediatrics1 mentions
- 2019Mapping of IDUA gene variants in Pakistani patients with mucopolysaccharidosis type 1.Journal of pediatric endocrinology & metabolism : JPEM1 mentions
- 2019Carnitine Inborn Errors of Metabolism.Molecules (Basel, Switzerland)1 mentions
- 2018Urea cycle disorder misdiagnosed as multiple sclerosis: a case report and review of the literature.The neuroradiology journal1 mentions
- 2018International practices in the dietary management of fructose 1-6 biphosphatase deficiency.Orphanet journal of rare diseases1 mentions
- 2018Secondary Hemophagocytic Syndrome Associated with COG6 Gene Defect: Report and Review.JIMD reports1 mentions
- 2018A targeted metabolomics approach for clinical diagnosis of inborn errors of metabolism.Analytica chimica acta1 mentions
- 2018Epilepsy in Propionic Acidemia: Case Series of 14 Saudi Patients.Journal of child neurology1 mentions
- 2018Inborn errors of metabolism associated with hyperglycaemic ketoacidosis and diabetes mellitus: narrative review.Sudanese journal of paediatrics1 mentions
- 2018Placental steroid sulphatase deficiency: an approach to antenatal care and delivery.Annals of Saudi medicine1 mentions
- 2017Incidence and Geographic Distribution of Succinic Semialdehyde Dehydrogenase (SSADH) Deficiency.JIMD reports1 mentions
- 2017Acute Illness Protocol for Organic Acidemias: Methylmalonic Acidemia and Propionic Acidemia.Pediatric emergency care1 mentions
- 2017Delineation of cystinuria in Saudi Arabia: A case series.BMC nephrology1 mentions
- 2017Expanded Newborn Screening Program in Saudi Arabia: Incidence of screened disorders.Journal of paediatrics and child health1 mentions
- 2017Acute Illness Protocol for Fatty Acid Oxidation and Carnitine Disorders.Pediatric emergency care1 mentions
- 2017A novel mutation in the glycine decarboxylase gene in patient with non-ketotic hyperglycinemia.Neurosciences (Riyadh, Saudi Arabia)1 mentions
- 2017Twenty novel mutations in BCKDHA, BCKDHB and DBT genes in a cohort of 52 Saudi Arabian patients with maple syrup urine disease.Molecular genetics and metabolism reports1 mentions
- 2017Phenylketonuria: A new look at an old topic, advances in laboratory diagnosis, and therapeutic strategies.International journal of health sciences1 mentions
- 2016Drug-Induced Mitochondrial Toxicity.Drug safety1 mentions
- 2016Phenotype, Sex of Rearing, Gender Re-Assignment, and Response to Medical Treatment in Extended Family Members with a Novel Mutation in the SRD5A2 Gene.Journal of clinical research in pediatric endocrinology1 mentions
- 2016Cause of death in patients with chronic visceral and chronic neurovisceral acid sphingomyelinase deficiency (Niemann-Pick disease type B and B variant): Literature review and report of new cases.Molecular genetics and metabolism1 mentions
- 2016Exome Sequencing and the Management of Neurometabolic Disorders.The New England journal of medicine1 mentions
- 2016Unravelling 5-oxoprolinuria (pyroglutamic aciduria) due to bi-allelic OPLAH mutations: 20 new mutations in 14 families.Molecular genetics and metabolism1 mentions
- 2016Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia.Orphanet journal of rare diseases1 mentions
- 2016Metabolomics enables precision medicine: "A White Paper, Community Perspective".Metabolomics : Official journal of the Metabolomic Society1 mentions
- 2016Hemophagocytic lymphohistiocytosis: A rare cause of recurrent encephalopathy.Intractable & rare diseases research1 mentions
- 2016Incidence of pediatric acute kidney injury in hospitalized patients.Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia1 mentions
- 2015Asparagine Synthetase Deficiency: New Inborn Errors of Metabolism.JIMD reports1 mentions
- 2015Glutaric aciduria type 1 as a cause of dystonic cerebral palsy.Saudi medical journal1 mentions
- 2014The Expanding MEGDEL Phenotype: Optic Nerve Atrophy, Microcephaly, and Myoclonic Epilepsy in a Child with SERAC1 Mutations.JIMD reports1 mentions
- 2013Drug treatment of inborn errors of metabolism: a systematic review.Archives of disease in childhood1 mentions
- 2013Autism spectrum disorders and inborn errors of metabolism: an update.Pediatric neurology1 mentions
- 2012Congenital disorder of glycosylation IIa: the trouble with diagnosing a dysmorphic inborn error of metabolism.American journal of medical genetics. Part A1 mentions
- 2012Phylogenetic analysis of uroporphyrinogen III synthase (UROS) gene.Bioinformation1 mentions
- 2011New and known mutations associated with inborn errors of metabolism in a heterogeneous Middle Eastern population.Saudi medical journal1 mentions
- 2011New and known mutations associated with inborn errors of metabolism in a heterogeneous Middle Eastern population.Saudi medical journal1 mentions
- 2011Risk factors and birth prevalence of birth defects and inborn errors of metabolism in Al Ahsa, Saudi Arabia.The Pan African medical journal1 mentions
- 2011Recognition and diagnostic approach to acute metabolic disorders in the neonatal period.Sudanese journal of paediatrics1 mentions
- 2011Tyrosinemia Typel: A case report.Sudanese journal of paediatrics1 mentions
- 2011Treatment strategies for acute metabolic disorders in neonates.Sudanese journal of paediatrics1 mentions
- 2010Homozygosity mapping: one more tool in the clinical geneticist's toolbox.Genetics in medicine : official journal of the American College of Medical Genetics1 mentions
- 2010Incidence and patterns of inborn errors of metabolism in the Eastern Province of Saudi Arabia, 1983-2008.Annals of Saudi medicine1 mentions
- 2008Lipoid proteinosis. A report of 2 siblings and a brief review of the literature.Saudi medical journal1 mentions
- 2006Quantification of succinylacetone in urine of hepatorenal tyrosinemia patients by HPLC with fluorescence detection.Clinica chimica acta; international journal of clinical chemistry1 mentions
- 2006Determination of succinylacetone in dried blood spots and liquid urine as a dansylhydrazone by liquid chromatography tandem mass spectrometry.Journal of chromatography. B, Analytical technologies in the biomedical and life sciences1 mentions
- 2005An inborn error of metabolism presenting as hypoxic-ischemic insult.Pediatric neurology1 mentions
- 2005A pediatric neurologist's clinical experiences in Saudi Arabia.Journal of child neurology1 mentions
- 2005Congenital and hereditary ocular abnormalities in cats.Clinical techniques in small animal practice1 mentions
- 2005Strategies for the prevention of hereditary diseases in a highly consanguineous population.Annals of human biology1 mentions
- 2004The natural history and the national pre-marital screening program in Saudi Arabia.Saudi medical journal1 mentions
- 2003A simple, rapid test for the differential diagnosis of glycogen storage disease type 3.Clinica chimica acta; international journal of clinical chemistry1 mentions
- 2002Pattern of inborn errors of metabolism in an Omani population of the Arabian Peninsula.Annals of tropical paediatrics1 mentions
- 2001Methylmalonic acidemia with renal involvement: a case report and review of literature.Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia1 mentions
- 1999Ochronotic arthropathy: case report and review of the literature.International orthopaedics1 mentions
- 1999Spectrum of genetic disorders and the impact on health care delivery: an introduction.Eastern Mediterranean health journal = La revue de sante de la Mediterranee orientale = al-Majallah al-sihhiyah li-sharq al-mutawassit1 mentions
- 1998Diagnosis of inborn errors of metabolism by tandem mass spectrometry.Annals of Saudi medicine1 mentions
- 1997Awareness of inborn errors of metabolism among parents in Saudi Arabia.Annals of Saudi medicine1 mentions
- 1994Experience of King Faisal Specialist Hospital and Research Center with Saudi organic acid disorders.Brain & development1 mentions
- 1994Unusual presentations of propionic acidemia.Brain & development1 mentions
- 1992Saudi variant of multiple sulfatase deficiency.Journal of child neurology1 mentions