{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T17:42:24Z","timestamp":1791999744327,"version":"4.4.0"},"reference-count":14,"publisher":"MDPI AG","issue":"5","license":[{"start":{"date-parts":[[2022,2,24]],"date-time":"2022-02-24T00:00:00Z","timestamp":1645660800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJERPH"],"abstract":"<jats:p>The authors present a case report of a boy with a classical form of phenylketonuria and Alazami syndrome. The inborn error of phenylalanine metabolism was diagnosed in the neonatal period based on population new-born screening. Despite early implementation of a low-phenylalanine diet and good biochemical control, the patient developed behavioural disorders and intellectual disability. He also presented with dysmorphic features. After long and extensive attempts to establish the genetic cause of this unusual phenotype, finally, at the age of 16 the boy was diagnosed with Alazami syndrome based on whole exome sequencing. The authors discussed the problem of neuropsychological disorders in patients with phenylketonuria and described typical clinical symptoms of Alazami syndrome. It was emphasized that the presence of one monogenic disease does not exclude the coexistence of another one.<\/jats:p>","DOI":"10.3390\/ijerph19052574","type":"journal-article","created":{"date-parts":[[2022,2,24]],"date-time":"2022-02-24T07:22:35Z","timestamp":1645687355000},"page":"2574","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Patient with Phenylketonuria and Intellectual Disability\u2014Problem Not Always Caused Exclusively by Insufficient Metabolic Control (Coexistence of PKU and Alazami Syndrome)"],"prefix":"10.3390","volume":"19","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5981-6456","authenticated-orcid":false,"given":"Micha\u0142","family":"Patalan","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Endocrinology, Diabetology, Metabolic Diseases and Cardiology, Pomeranian Medical University in Szczecin, Unii Lubelskiej 1, 71-252 Szczecin, Poland"},{"name":"Independent Public Clinical Hospital No. 1, Pomeranian Medical University in Szczecin, Unii Lubelskiej 1, 71-252 Szczecin, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0760-5120","authenticated-orcid":false,"given":"Alicja","family":"Le\u015bniak","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Endocrinology, Diabetology, Metabolic Diseases and Cardiology, Pomeranian Medical University in Szczecin, Unii Lubelskiej 1, 71-252 Szczecin, Poland"},{"name":"Independent Public Clinical Hospital No. 1, Pomeranian Medical University in Szczecin, Unii Lubelskiej 1, 71-252 Szczecin, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Krzysztof","family":"Bernatowicz","sequence":"additional","affiliation":[{"name":"Adult Genetics Unit, Royal Adelaide Hospital, Port Road, Adelaide 5000, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hanna","family":"Romanowska","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Endocrinology, Diabetology, Metabolic Diseases and Cardiology, Pomeranian Medical University in Szczecin, Unii Lubelskiej 1, 71-252 Szczecin, Poland"},{"name":"Independent Public Clinical Hospital No. 1, Pomeranian Medical University in Szczecin, Unii Lubelskiej 1, 71-252 Szczecin, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"El\u017cbieta","family":"Krzywi\u0144ska-Zdeb","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Endocrinology, Diabetology, Metabolic Diseases and Cardiology, Pomeranian Medical University in Szczecin, Unii Lubelskiej 1, 71-252 Szczecin, Poland"},{"name":"Independent Public Clinical Hospital No. 1, Pomeranian Medical University in Szczecin, Unii Lubelskiej 1, 71-252 Szczecin, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mieczys\u0142aw","family":"Walczak","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Endocrinology, Diabetology, Metabolic Diseases and Cardiology, Pomeranian Medical University in Szczecin, Unii Lubelskiej 1, 71-252 Szczecin, Poland"},{"name":"Independent Public Clinical Hospital No. 1, Pomeranian Medical University in Szczecin, Unii Lubelskiej 1, 71-252 Szczecin, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Gi\u017cewska","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Endocrinology, Diabetology, Metabolic Diseases and Cardiology, Pomeranian Medical University in Szczecin, Unii Lubelskiej 1, 71-252 Szczecin, Poland"},{"name":"Independent Public Clinical Hospital No. 1, Pomeranian Medical University in Szczecin, Unii Lubelskiej 1, 71-252 Szczecin, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,2,24]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"234","DOI":"10.1016\/j.ajhg.2020.06.006","article-title":"The Genetic Landscape and Epidemiology of Phenylketonuria","volume":"107","author":"Hillert","year":"2020","journal-title":"Am. J. Hum. Genet."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"162","DOI":"10.1186\/s13023-017-0685-2","article-title":"The complete European guidelines on phenylketonuria: Diagnosis and treatment","volume":"12","author":"Macdonald","year":"2017","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1016\/j.ymgmr.2016.03.003","article-title":"Relationship between age and white matter integrity in children with phenylketonuria","volume":"7","author":"Wesonga","year":"2016","journal-title":"Mol. Genet. Metab. Rep."},{"key":"ref_4","unstructured":"Szajewska, H., and Horvath, A. (2017). \u017bywienie i Leczenie \u017bywieniowe Dzieci i M\u0142odzie\u017cy, Medycyna Praktyczna. [1st ed.]."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"18014","DOI":"10.1038\/hgv.2018.14","article-title":"Novel compound heterozygous variants in the LARP7 gene in a patient with Alazami syndrome","volume":"5","author":"Dateki","year":"2018","journal-title":"Hum. Genome Var."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"1429","DOI":"10.1002\/humu.22175","article-title":"Loss of function mutation in LARP7, chaperone of 7SK ncRNA, causes a syndrome of facial dysmorphism, intellectual disability, and primordial dwarfism","volume":"33","author":"Alazami","year":"2012","journal-title":"Hum. Mutat."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"2722","DOI":"10.1002\/ajmg.a.61832","article-title":"Alazami syndrome: Phenotypic expansion and clinical resemblance to Smith\u2013Lemli\u2013Opitz syndrome","volume":"182","author":"Gana","year":"2020","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"2613","DOI":"10.1039\/C6MB00252H","article-title":"Unraveling the conformational determinants of LARP7 and 7SK small nuclear RNA by theoretical approaches","volume":"12","author":"Xu","year":"2016","journal-title":"Mol. Biosyst."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"1565","DOI":"10.1002\/ajmg.a.61189","article-title":"Updating the neurodevelopmental profile of Alazami syndrome: Illustrating the role of developmental assessment in rare genetic disorders","volume":"179","author":"Wojcik","year":"2019","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1016\/j.ejmg.2018.07.003","article-title":"LARP7 variants and further delineation of the Alazami syndrome phenotypic spectrum among primordial dwarfisms: 2 sisters","volume":"62","author":"Them","year":"2019","journal-title":"Eur. J. Med. Genet."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"1606","DOI":"10.1002\/ajmg.a.62118","article-title":"Alazami syndrome: Report of three Indian patients with phenotypic spectrum from adolescence to adulthood","volume":"185","author":"Das","year":"2021","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"472","DOI":"10.1136\/adc.65.5.472","article-title":"Intelligence and quality of dietary treatment in phenylketonuria","volume":"65","author":"Smith","year":"1990","journal-title":"Arch. Dis. Child."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"S22","DOI":"10.1016\/j.ymgme.2009.10.007","article-title":"Executive function in early-treated phenylketonuria: Profile and underlying mechanisms","volume":"99","author":"Christ","year":"2010","journal-title":"Mol. Genet. Metab."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"242","DOI":"10.1016\/j.ymgme.2015.10.001","article-title":"The challenges of managing coexistent disorders with phenylketonuria: 30 cases","volume":"116","author":"MacDonald","year":"2015","journal-title":"Mol. Genet. 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