phenylketonuria
SaudiVarKB evidence summary derived from retained literature mentions.
26Phenotype mentions
26Publications
6Associated gene records
7Associated variant records
Associated gene records
Co-mentioned in the same publicationsAssociated variant records
Co-mentioned in the same publications| Variant | Identifier / context | Articles | Mentions |
|---|---|---|---|
| c.169_171del | c.169_171del | 1 | 1 |
| p.Arg252Trp | p.Arg252Trp | 1 | 1 |
| p.Thr106Met | p.Thr106Met | 1 | 1 |
| p.Asn72Lys | p.Asn72Lys | 1 | 1 |
| p.Arg9His | p.Arg9His | 1 | 1 |
| p.Ser32Gly | p.Ser32Gly | 1 | 1 |
| c.8817_8830dup | c.8817_8830dup | 1 | 1 |
Associated population records
Co-mentioned in the same publications| Population | Identifier / context | Articles | Mentions |
|---|---|---|---|
| Population record | — | 6 | 6 |
| Saudi Arabia | — | 2 | 2 |
| Population record | Cohort 65 | 1 | 1 |
| Population record | Cohort 0 | 1 | 1 |
| Saudi Arabia | Cohort 238 | 1 | 1 |
| Population record | Cohort 61 | 1 | 1 |
| Population record | Cohort 34 | 1 | 1 |
| Saudi Arabia | Cohort 135 | 1 | 1 |
| Saudi Arabia · Riyadh | Cohort 72 | 1 | 1 |
| Saudi Arabia | Cohort 30 | 1 | 1 |
| Saudi Arabia · Riyadh | Cohort 56,632 | 1 | 1 |
Supporting publications
26 records- 2026Effect of walking exercise on liver enzymes in children with phenylketonuria and non-alcoholic fatty liver disease: A randomized controlled trial.Medicina clinica1 mentions
- 2026Pushing the Boundaries of Biomarker Discovery in Phenylketonuria: Metabolomic Profiling Reveals Novel Biomarkers and Their Associations with Phenylalanine.Molecules (Basel, Switzerland)1 mentions
- 2025Protein requirements in adults with phenylketonuria and bioavailability of glycomacropeptide compared to an l-amino acid-based product.Journal of inherited metabolic disease1 mentions
- 2025Effects of exercise conducted prior to phenylketonuria-type meal on appetite, satiety hormones and energy expenditure: a randomised cross-over trial.European journal of clinical nutrition1 mentions
- 2025A non-enzymatic electrochemical biosensor for the detection of phenylalanine using bismuth telluride nanosheets.Journal of materials chemistry. B1 mentions
- 2025Nutritional knowledge of the phenylketonuria diet among healthcare providers in Saudi Arabia.Saudi medical journal1 mentions
- 2024First successful outcomes of pegvaliase (PALYNZIQ) in children.BMC medical genomics1 mentions
- 2024Unveiling the genetic tapestry: Rare disease genomics of spinal muscular atrophy and phenylketonuria proteins.International journal of biological macromolecules1 mentions
- 2023Identification of Variants Underlying Phenylalanine Hydroxylase Deficiency in Saudi Arabia.Genetic testing and molecular biomarkers1 mentions
- 2023Classical phenylketonuria presenting as maternal PKU syndrome in the offspring of an intellectually normal woman.JIMD reports1 mentions
- 2022Genetic etiology and clinical challenges of phenylketonuria.Human genomics1 mentions
- 2021BH4-deficient hyperphenylalaninemia in Russia.PloS one1 mentions
- 2021Mechanisms of obesity in children and adults with phenylketonuria on contemporary treatment.Clinical nutrition ESPEN1 mentions
- 2020Incidence of newborn screening disorders among 56632 infants in Central Saudi Arabia. A 6-year study.Saudi medical journal1 mentions
- 2018Impact of phenylketonuria type meal on appetite, thermic effect of feeding and postprandial fat oxidation.Clinical nutrition (Edinburgh, Scotland)1 mentions
- 2018The Prevalence of Phenylketonuria in Arab Countries, Turkey, and Iran: A Systematic Review.BioMed research international1 mentions
- 2017Phenylketonuria: A new look at an old topic, advances in laboratory diagnosis, and therapeutic strategies.International journal of health sciences1 mentions
- 2015ADHD, autism and neuroradiological complications among phenylketonuric children in Upper Egypt.Acta neurologica Belgica1 mentions
- 2015Depression and anxiety among parents of phenylketonuria children.Neurosciences (Riyadh, Saudi Arabia)1 mentions
- 2013Autism spectrum disorders and inborn errors of metabolism: an update.Pediatric neurology1 mentions
- 2012Identification of a novel ZNF469 mutation in a large family with Ehlers-Danlos phenotype.Gene1 mentions
- 2011New and known mutations associated with inborn errors of metabolism in a heterogeneous Middle Eastern population.Saudi medical journal1 mentions
- 2006Progressive sclerodermatous skin changes in a child with phenylketonuria.Pediatric dermatology1 mentions
- 2005Diffusion-weighted MR imaging in leukodystrophies.European radiology1 mentions
- 1996Saudi aminoacidemias: a six-year study.Indian journal of pediatrics1 mentions
- 1994Autosomal recessive disorders among Arabs: an overview from Kuwait.Journal of medical genetics1 mentions