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In addition, the patient had low cerebral spinal fluid tetrahydrobiopterin (BH<jats:sub>4<\/jats:sub>) levels, suggesting dysfunction in the pterin biosynthetic pathway. As a result, the patient started on sapropterin, a BH<jats:sub>4<\/jats:sub> replacement small molecule. After sapropterin treatment, catatonia improved, and the need for ECT decreased. There was an improvement in her cognitive ability, attention and independence. However, there has been no improvement in seizure frequency.<\/jats:p>","DOI":"10.1136\/bcr-2023-256155","type":"journal-article","created":{"date-parts":[[2024,1,10]],"date-time":"2024-01-10T00:29:49Z","timestamp":1704846589000},"page":"e256155","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":6,"title":["Evaluation of catatonia in autism and severe depression revealing Phelan-McDermid syndrome and tetrahydrobiopterin deficiency"],"prefix":"10.1136","volume":"17","author":[{"given":"Georgia","family":"Boley","sequence":"first","affiliation":[{"name":"Human Genetics, University of Pittsburgh Graduate School of Public Health, Pittsburgh, Pennsylvania, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joseph","family":"Pierri","sequence":"additional","affiliation":[{"name":"Department of Psychiatry, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David","family":"Finegold","sequence":"additional","affiliation":[{"name":"Human Genetics, University of Pittsburgh Graduate School of Public Health, Pittsburgh, Pennsylvania, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lisa","family":"Pan","sequence":"additional","affiliation":[{"name":"Human Genetics, University of Pittsburgh Graduate School of Public Health, Pittsburgh, Pennsylvania, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2024,1,4]]},"reference":[{"key":"2025082801513148000_17.1.e256155.1","doi-asserted-by":"publisher","DOI":"10.1159\/000334260"},{"key":"2025082801513148000_17.1.e256155.2","unstructured":"Foundation PMS . What is Phelan-McDermid syndrome? Phelan-McDermid Syndrome Foundation; 2021. Available: https:\/\/pmsf.org\/about-pms\/ [Accessed 19 Oct 2021]."},{"key":"2025082801513148000_17.1.e256155.3","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.4354-04.2005"},{"key":"2025082801513148000_17.1.e256155.4","unstructured":"Phelan K , Rogers RC , Boccuto L . Phelan-McDermid syndrome. In: Adam MP , Ardinger HH , Pagon RA , et al , eds. Genereviews. Seattle: Washington University of Washington, 2005."},{"key":"2025082801513148000_17.1.e256155.5","doi-asserted-by":"publisher","DOI":"10.1021\/cr9402034"},{"key":"2025082801513148000_17.1.e256155.6","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20366"},{"key":"2025082801513148000_17.1.e256155.7","doi-asserted-by":"publisher","DOI":"10.1016\/j.abb.2010.12.017"},{"key":"2025082801513148000_17.1.e256155.8","doi-asserted-by":"crossref","unstructured":"Pan L , McKain BW , Madan-Khetarpal S , et al . 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