{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,9]],"date-time":"2026-07-09T22:28:18Z","timestamp":1783636098369,"version":"3.55.0"},"reference-count":25,"publisher":"FapUNIFESP (SciELO)","issue":"2A","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Arq. Neuro-Psiquiatr."],"published-print":{"date-parts":[[2007,6]]},"abstract":"<jats:p>We describe three unrelated individuals, two males (ages 35 and 9) and a female (age 8) presenting with late diagnosed phenylketonuria (PKU) and autistic behavior, all showing poor adhesion to the dietary treatment resulting in high plasmatic phenylalanine levels, particularly in the oldest subject. Clinical findings included hair hypopigmentation, microcephaly, severe mental retardation with absent development of verbal language and autistic symptoms in all three patients, whereas variable neurological signs such as seizures, spasticity, ataxia, aggressivity, and hyperactivity were individually found. Homozygosity for the IVS10nt11g\/a (IVS10nt546) was found in all. This is the first report of molecular findings in subjects with PKU also presenting with autistic features. The authors discuss if this mutation is particularly involved in the association of autistic symptoms in untreated PKU individuals.<\/jats:p>","DOI":"10.1590\/s0004-282x2007000200003","type":"journal-article","created":{"date-parts":[[2007,9,28]],"date-time":"2007-09-28T03:00:11Z","timestamp":1190948411000},"page":"202-205","source":"Crossref","is-referenced-by-count":15,"title":["Genotype and natural history in unrelated individual with phenylketonuria and autistic behavior"],"prefix":"10.1590","volume":"65","author":[{"given":"Carlos Eduardo","family":"Steiner","sequence":"first","affiliation":[{"name":"Universidade Estadual de Campinas,  Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angelina Xavier","family":"Acosta","sequence":"additional","affiliation":[{"name":"Universidade Federal da Bahia,  Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marilisa Mantovani","family":"Guerreiro","sequence":"additional","affiliation":[{"name":"Universidade Estadual de Campinas,  Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonia Paula","family":"Marques-de-Faria","sequence":"additional","affiliation":[{"name":"Universidade Estadual de Campinas,  Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"530","reference":[{"key":"ref1","first-page":"26","article-title":"Anormalidades cromoss\u00f4micas espor\u00e1dicas associadas \u00e0 s\u00edndrome aut\u00edstica","volume":"4","author":"Kuczynski E","year":"1996","journal-title":"Rev Neuropsiq Inf Adol"},{"key":"ref2","doi-asserted-by":"crossref","first-page":"463","DOI":"10.1023\/A:1005563926383","article-title":"Metabolic approaches to the treatment of autism spectrum disorders","volume":"30","author":"Page T","year":"2000","journal-title":"J Autism Dev Disord","ISSN":"https:\/\/id.crossref.org\/issn\/0162-3257","issn-type":"print"},{"key":"ref3","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1111\/j.1469-7610.1988.tb00714.x","article-title":"The neurobiology of infantile autism","volume":"29","author":"Gillberg C","year":"1988","journal-title":"J Child Psychol Psychiatry","ISSN":"https:\/\/id.crossref.org\/issn\/0021-9630","issn-type":"print"},{"key":"ref4","series-title":"The biology of the autistic syndromes","author":"Gillberg C","year":"1992","edition":"2"},{"key":"ref5","doi-asserted-by":"crossref","first-page":"176","DOI":"10.1590\/S0004-282X2003000200003","article-title":"Genetic and neurological evaluation in a sample of individuals with pervasive developmental disorders","volume":"61","author":"Steiner CE","year":"2003","journal-title":"Arq Neuropsiquiatr","ISSN":"https:\/\/id.crossref.org\/issn\/0004-282X","issn-type":"print"},{"key":"ref6","doi-asserted-by":"crossref","first-page":"1245","DOI":"10.1073\/pnas.74.3.1245","article-title":"Analyses of human Y-chromosome-specific reiterated DNA in chromosome variants","volume":"74","author":"Kunkel LM","year":"1977","journal-title":"Proc Natl Acad Sci USA","ISSN":"https:\/\/id.crossref.org\/issn\/0027-8424","issn-type":"print"},{"key":"ref7","doi-asserted-by":"crossref","first-page":"1703","DOI":"10.1093\/hmg\/2.10.1703","article-title":"Mutational spectrum of phenylalanine hydroxylase deficiency in Sicily: implications for diagnosis of hyperphenylalaninemia in Southern Europe","volume":"2","author":"Guldberg P","year":"1993","journal-title":"Human Mol Genet"},{"key":"ref8","doi-asserted-by":"crossref","first-page":"122","DOI":"10.1002\/1098-1004(200102)17:2<122::AID-HUMU4>3.0.CO;2-C","article-title":"Mutations of the phenylalanine hydroxylase (PAH) gene in Brazilian patients with phenylketonuria","volume":"17","author":"Acosta AX","year":"2001","journal-title":"Hum Mutat","ISSN":"https:\/\/id.crossref.org\/issn\/1059-7794","issn-type":"print"},{"key":"ref9","series-title":"The metabolic and molecular basis of inherited disease","first-page":"1668","volume-title":"The hyperphenylalaninemias","author":"Scriver","year":"2001","edition":"8"},{"key":"ref10","first-page":"249","article-title":"The \"autistic syndrome\" and phenylketonuria","volume":"1","author":"Friedman E","year":"1969","journal-title":"Schizophrenia","ISSN":"https:\/\/id.crossref.org\/issn\/0036-6129","issn-type":"print"},{"key":"ref11","doi-asserted-by":"crossref","first-page":"126","DOI":"10.1001\/jama.1980.03300280024022","article-title":"Detection of phenylketonuria in autistic and psychotic children","volume":"243","author":"Lowe TL","year":"1980","journal-title":"JAMA","ISSN":"https:\/\/id.crossref.org\/issn\/0098-7484","issn-type":"print"},{"key":"ref12","doi-asserted-by":"crossref","first-page":"749","DOI":"10.1001\/archneur.1980.00500610029003","article-title":"Autism and mental retardation: Neuropathologic studies performed in four retarded persons with autistic behavior","volume":"37","author":"Williams RS","year":"1980","journal-title":"Arch Neurol","ISSN":"https:\/\/id.crossref.org\/issn\/0003-9942","issn-type":"print"},{"key":"ref13","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1192\/bjp.155.2.251","article-title":"A Chinese classic phenylketonuria manifested as autism","volume":"155","author":"Chen CH","year":"1989","journal-title":"Br J Psychiatry","ISSN":"https:\/\/id.crossref.org\/issn\/0007-1250","issn-type":"print"},{"key":"ref14","first-page":"228","article-title":"The etiology of autism in a group of mentally retarded subjects","volume":"3","author":"Elia M","year":"1990","journal-title":"Brain Dysfunct"},{"key":"ref15","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1177\/088307389200700103","article-title":"Phenylketonuria: an underlying etiology of autistic syndrome: a case report","volume":"7","author":"Miladi N","year":"1992","journal-title":"J Child Neurol","ISSN":"https:\/\/id.crossref.org\/issn\/0883-0738","issn-type":"print"},{"key":"ref16","first-page":"13","article-title":"Heterogeneidad cl\u2019nica del sindrome autista","volume":"33","author":"Moreno-Fuenmayor H","year":"1992","journal-title":"Invest Clin","ISSN":"https:\/\/id.crossref.org\/issn\/0535-5133","issn-type":"print"},{"key":"ref17","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1023\/A:1022999712639","article-title":"Autism and phenylketonuria","volume":"33","author":"Baieli S","year":"2003","journal-title":"J Autism Dev Disord","ISSN":"https:\/\/id.crossref.org\/issn\/0162-3257","issn-type":"print"},{"key":"ref18","doi-asserted-by":"crossref","first-page":"724","DOI":"10.1093\/schbul\/12.4.724","article-title":"Autism and genetic disorders","volume":"13","author":"Reiss AL","year":"1986","journal-title":"Schizophrenia Bull"},{"key":"ref19","doi-asserted-by":"crossref","first-page":"370","DOI":"10.1002\/humu.10198","article-title":"Phenylketonuria: genotype-phenotype correlations based on expression analysis of structural and functional mutations in PAH","volume":"21","author":"Pey AL","year":"2003","journal-title":"Hum Mutat","ISSN":"https:\/\/id.crossref.org\/issn\/1059-7794","issn-type":"print"},{"key":"ref20","doi-asserted-by":"crossref","first-page":"350","DOI":"10.1007\/s004390050515","article-title":"The STR252 - IVS10nt546 - VNTR7 phenylalanine hydroxylase minihaplotype in five Mediterranean samples","volume":"100","author":"Cal\u00ed F","year":"1997","journal-title":"Hum Genet","ISSN":"https:\/\/id.crossref.org\/issn\/0340-6717","issn-type":"print"},{"key":"ref21","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1016\/S1096-7192(03)00032-5","article-title":"Molecular characterization of phenylketonuria in South Brazil","volume":"79","author":"Silva LCS","year":"2003","journal-title":"Mol Genet Metab","ISSN":"https:\/\/id.crossref.org\/issn\/1096-7192","issn-type":"print"},{"key":"ref22","doi-asserted-by":"crossref","first-page":"1289","DOI":"10.1093\/hmg\/2.8.1289","article-title":"Presence of the Mediterranean PKU mutation IVS10 in Latin America","volume":"2","author":"P\u00e9rez B","year":"1993","journal-title":"Hum Mol Genet","ISSN":"https:\/\/id.crossref.org\/issn\/0964-6906","issn-type":"print"},{"key":"ref23","doi-asserted-by":"crossref","first-page":"301","DOI":"10.1136\/jmg.35.4.301","article-title":"Population genetics of hyperphenylalaninemia resulting from phenylalanine hydroxilase deficiency in Portugal","volume":"35","author":"Rivera I","year":"1998","journal-title":"J Med Genet","ISSN":"https:\/\/id.crossref.org\/issn\/0022-2593","issn-type":"print"},{"key":"ref24","first-page":"59","author":"Amorim T","year":"2004"},{"key":"ref25","first-page":"182","article-title":"Some etiologic and prognostic factors in early infantile autism and psychosis","volume":"55","author":"Knobloch H","year":"1975","journal-title":"Pediatrics","ISSN":"https:\/\/id.crossref.org\/issn\/0031-4005","issn-type":"print"}],"container-title":["Arquivos de Neuro-Psiquiatria"],"original-title":[],"link":[{"URL":"http:\/\/www.scielo.br\/pdf\/anp\/v65n2a\/a03v652a.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2017,5,26]],"date-time":"2017-05-26T15:38:12Z","timestamp":1495813092000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.scielo.br\/scielo.php?script=sci_arttext&pid=S0004-282X2007000200003&lng=en&tlng=en"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,6]]},"references-count":25,"journal-issue":{"issue":"2A","published-print":{"date-parts":[[2007,6]]}},"alternative-id":["S0004-282X2007000200003"],"URL":"https:\/\/doi.org\/10.1590\/s0004-282x2007000200003","relation":{},"ISSN":["0004-282X"],"issn-type":[{"value":"0004-282X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007,6]]}}}