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To assess the effect of neurotransmitter deficiencies on intelligence, quality of life, and behavior, the data of 148 patients in the registry of the International Working Group on Neurotransmitter Related Disorders (iNTD) was evaluated using results from standardized age\u2010adjusted tests and questionnaires. Patients with a primary disorder of monoamine metabolism had lower IQ scores (mean IQ 58, range 40\u2010100) within the range of cognitive impairment (&lt;70) compared to patients with a BH<jats:sub>4<\/jats:sub> deficiency (mean IQ 84, range 40\u2010129). Short attention span and distractibility were most frequently mentioned by parents, while patients reported most frequently anxiety and distractibility when asked for behavioral traits. In individuals with succinic semialdehyde dehydrogenase deficiency, self\u2010stimulatory behaviors were commonly reported by parents, whereas in patients with dopamine transporter deficiency, DNAJC12 deficiency, and monoamine oxidase A deficiency, self\u2010injurious or mutilating behaviors have commonly been observed. Phobic fears were increased in patients with 6\u2010pyruvoyltetrahydropterin synthase deficiency, while individuals with sepiapterin reductase deficiency frequently experienced communication and sleep difficulties. Patients with BH<jats:sub>4<\/jats:sub> deficiencies achieved significantly higher quality of life as compared to other groups. This analysis of the iNTD registry data highlights: (a) difference in IQ and subdomains of quality of life between BH<jats:sub>4<\/jats:sub> deficiencies and primary neurotransmitter\u2010related disorders and (b) previously underreported behavioral traits.<\/jats:p>","DOI":"10.1002\/jimd.12416","type":"journal-article","created":{"date-parts":[[2021,7,10]],"date-time":"2021-07-10T04:30:45Z","timestamp":1625891445000},"page":"1489-1502","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Assessment of intellectual impairment, health\u2010related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the <scp>iNTD<\/scp> registry"],"prefix":"10.1002","volume":"44","author":[{"given":"Mareike","family":"Keller","sequence":"first","affiliation":[{"name":"Division of Child Neurology and Metabolic Medicine University Children's Hospital Heidelberg  Heidelberg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6909-0003","authenticated-orcid":false,"given":"Heiko","family":"Brennenstuhl","sequence":"additional","affiliation":[{"name":"Division of Child Neurology and Metabolic Medicine University Children's Hospital Heidelberg  Heidelberg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Oya","family":"Kuseyri H\u00fcbschmann","sequence":"additional","affiliation":[{"name":"Division of Child Neurology and Metabolic Medicine University Children's Hospital Heidelberg  Heidelberg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Filippo","family":"Manti","sequence":"additional","affiliation":[{"name":"Department of Human Neuroscience Unit of Child Neurology and Psychiatry, Universit\u00e0 degli Studi di Roma La Sapienza  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natalia Alexandra","family":"Julia Palacios","sequence":"additional","affiliation":[{"name":"Inborn errors of metabolism Unit, Department of Neurology Institut de Recerca Sant Joan de D\u00e9u and CIBERER\u2010ISCIII  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer","family":"Friedman","sequence":"additional","affiliation":[{"name":"UCSD Departments of Neuroscience and Pediatrics; 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