{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,9]],"date-time":"2026-10-09T16:27:06Z","timestamp":1791563226206,"version":"4.3.4"},"reference-count":23,"publisher":"Oxford University Press (OUP)","issue":"7","license":[{"start":{"date-parts":[[2023,2,2]],"date-time":"2023-02-02T00:00:00Z","timestamp":1675296000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100008530","name":"Fondo Europeo de desarrollo regional","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100008530","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,7,3]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>There are few causes of treatable neurodevelopmental diseases described to date. Branched-chain ketoacid dehydrogenase kinase (BCKDK) deficiency causes branched-chain amino acid (BCAA) depletion and is linked to a neurodevelopmental disorder characterized by autism, intellectual disability and microcephaly. We report the largest cohort of patients studied, broadening the phenotypic and genotypic spectrum. Moreover, this is the first study to present newborn screening findings and mid-term clinical outcome.<\/jats:p>\n               <jats:p>In this cross-sectional study, patients with a diagnosis of BCKDK deficiency were recruited via investigators\u2019 practices through a MetabERN initiative. Clinical, biochemical and genetic data were collected. Dried blood spot (DBS) newborn screening (NBS) amino acid profiles were retrieved from collaborating centres and compared to a healthy newborn reference population.<\/jats:p>\n               <jats:p>Twenty-one patients with BCKDK mutations were included from 13 families. Patients were diagnosed between 8 months and 16 years (mean: 5.8 years, 43% female). At diagnosis, BCAA levels (leucine, valine and isoleucine) were below reference values in plasma and in CSF. All patients had global neurodevelopmental delay; 18\/21 had gross motor function (GMF) impairment with GMF III or worse in 5\/18, 16\/16 intellectual disability, 17\/17 language impairment, 12\/17 autism spectrum disorder, 9\/21 epilepsy, 12\/15 clumsiness, 3\/21 had sensorineural hearing loss and 4\/20 feeding difficulties. No microcephaly was observed at birth, but 17\/20 developed microcephaly during follow-up. Regression was reported in six patients. Movement disorder was observed in 3\/21 patients: hyperkinetic movements (1), truncal ataxia (1) and dystonia (2). After treatment with a high-protein diet (\u2265 2 g\/kg\/day) and BCAA supplementation (100\u2013250 mg\/kg\/day), plasma BCAA increased significantly (P &amp;lt; 0.001), motor functions and head circumference stabilized\/improved in 13\/13 and in 11\/15 patients, respectively. Among cases with follow-up data, none of the three patients starting treatment before 2 years of age developed autism at follow-up. The patient with the earliest age of treatment initiation (8 months) showed normal development at 3 years of age. NBS in DBS identified BCAA levels significantly lower than those of the normal population.<\/jats:p>\n               <jats:p>This work highlights the potential benefits of dietetic treatment, in particular early introduction of BCAA. Therefore, it is of utmost importance to increase awareness about this treatable disease and consider it as a candidate for early detection by NBS programmes.<\/jats:p>","DOI":"10.1093\/brain\/awad010","type":"journal-article","created":{"date-parts":[[2023,2,2]],"date-time":"2023-02-02T22:35:35Z","timestamp":1675377335000},"page":"3003-3013","source":"Crossref","is-referenced-by-count":33,"title":["BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screening"],"prefix":"10.1093","volume":"146","author":[{"given":"Trine","family":"Tangeraas","sequence":"first","affiliation":[{"name":"Paediatric and Adolescent Medicine, Oslo University Hospital , 0424 Oslo , Norway"},{"name":"European Reference Network for Hereditary Metabolic Diseases (MetabERN)"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4470-9524","authenticated-orcid":false,"given":"Juliana R","family":"Constante","sequence":"additional","affiliation":[{"name":"European Reference Network for Hereditary Metabolic Diseases (MetabERN)"},{"name":"Neurometabolic Unit and Synaptic Metabolism Laboratory, Department of Neurology, Sant Joan de D\u00e9u Hospital, IPR , Barcelona 08950 , Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III , Madrid 28029 , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4860-4615","authenticated-orcid":false,"given":"Paul Hoff","family":"Backe","sequence":"additional","affiliation":[{"name":"European Reference Network for Hereditary Metabolic Diseases (MetabERN)"},{"name":"Department of Medical Biochemistry, Oslo University Hospital-Rikshospitalet , PO Box 4950 Nydalen, OUS HF Rikshospitalet, 0424 Oslo , Norway"},{"name":"Department of Microbiology, Clinic for Diagnostics and Intervention, Oslo University Hospital, Rikshospitalet , Nydalen, N-0424 Oslo , Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alfonso","family":"Oyarz\u00e1bal","sequence":"additional","affiliation":[{"name":"European Reference Network for Hereditary Metabolic Diseases (MetabERN)"},{"name":"Neurometabolic Unit and Synaptic Metabolism Laboratory, Department of Neurology, Sant Joan de D\u00e9u Hospital, IPR , Barcelona 08950 , Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III , Madrid 28029 , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julia","family":"Neugebauer","sequence":"additional","affiliation":[{"name":"European Reference Network for Hereditary Metabolic Diseases (MetabERN)"},{"name":"Department of Pediatric Gastroenterology, Nephrology and Metabolic Medicine, Charit\u00e9\u2014Universit\u00e4tsmedizin Berlin , Berlin 13353 , Germany"},{"name":"Center for Chronically Sick Children, Charit\u00e9\u2014Universit\u00e4tsmedizin Berlin , Berlin 13353 , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natalie","family":"Weinhold","sequence":"additional","affiliation":[{"name":"European Reference Network for Hereditary Metabolic Diseases (MetabERN)"},{"name":"Department of Pediatric Gastroenterology, Nephrology and Metabolic Medicine, Charit\u00e9\u2014Universit\u00e4tsmedizin Berlin , Berlin 13353 , Germany"},{"name":"Center for Chronically Sick Children, Charit\u00e9\u2014Universit\u00e4tsmedizin Berlin , Berlin 13353 , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francois","family":"Boemer","sequence":"additional","affiliation":[{"name":"European Reference Network for Hereditary Metabolic Diseases (MetabERN)"},{"name":"Biochemical Genetics Laboratory, Human Genetics, CHU of Liege, University of Li\u00e8ge , Li\u00e8ge 4000 , Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fran\u00e7ois G","family":"Debray","sequence":"additional","affiliation":[{"name":"European Reference Network for Hereditary Metabolic Diseases (MetabERN)"},{"name":"Department of Human Genetics, CHU of Liege, University of Li\u00e8ge , Li\u00e8ge 4000 , Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Burcu","family":"Ozturk-Hism","sequence":"additional","affiliation":[{"name":"Department of Pediatric Metabolic Diseases, Marmara University School of Medicine , Istanbul 34854 , Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gumus","family":"Evren","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, University of Harran , 63000 Sanliurfa , Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eminoglu F","family":"Tuba","sequence":"additional","affiliation":[{"name":"Department of Pediatric Metabolism, Ankara University School of Medicine , 06100 Ankara , 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