{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T14:53:31Z","timestamp":1790780011965,"version":"4.1.0"},"reference-count":27,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2019,2,11]],"date-time":"2019-02-11T00:00:00Z","timestamp":1549843200000},"content-version":"vor","delay-in-days":41,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2019,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Transaldolase deficiency (TALDO\u2010D) is a rare autosomal recessive inborn error of the pentose phosphate pathway. Since its first description in 2001, several case reports have been published, but there has been no comprehensive overview of phenotype, genotype, and phenotype\u2013genotype correlation.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We performed a retrospective questionnaire and literature study of clinical, biochemical, and molecular data of 34 patients from 25 families with proven TALDO\u2010D. In some patients, endocrine abnormalities have been found. To further evaluate these abnormalities, we performed biochemical investigations on blood of 14 patients.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results and conclusions<\/jats:title><jats:p>Most patients (<jats:italic>n<\/jats:italic> =\u200922) had an early\u2010onset presentation (prenatally or before 1 month of age); 12 patients had a late\u2010onset presentation (3 months to 9 years). Main presenting symptoms were intrauterine growth restriction, dysmorphic facial features, congenital heart disease, anemia, thrombocytopenia, and hepato(spleno)megaly. An older sib of two affected patients was asymptomatic until the age of 9 years, and only after molecular diagnosis was hepatomegaly noted. In some patients, there was gonadal dysfunction with low levels of testosterone and secondary luteinizing hormone (LH) and follicle\u2010stimulating hormone (FSH) abnormalities later in life. This overview provides information that can be helpful for managing patients and counseling families regarding prognosis. Diagnostic guidelines, possible genotype\u2013phenotype correlations, treatment options, and pathophysiological disease mechanisms are proposed.<\/jats:p><\/jats:sec>","DOI":"10.1002\/jimd.12036","type":"journal-article","created":{"date-parts":[[2019,2,11]],"date-time":"2019-02-11T08:08:54Z","timestamp":1549872534000},"page":"147-158","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":50,"title":["Clinical, biochemical, and molecular overview of transaldolase deficiency and evaluation of the endocrine function: Update of 34 patients"],"prefix":"10.1002","volume":"42","author":[{"given":"Monique","family":"Williams","sequence":"first","affiliation":[{"name":"Metabolic Laboratory, Department of Clinical Chemistry Amsterdam Neuroscience, VU University Medical Center  Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vassili","family":"Valayannopoulos","sequence":"additional","affiliation":[{"name":"Sanofi Genzyme  Cambridge Massachusetts USA"},{"name":"Reference Center for Inherited Metabolic Disease Institut IMAGINE, Hopital Universitaire Necker \u2010 Enfants Malades  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ruqaiah","family":"Altassan","sequence":"additional","affiliation":[{"name":"King Abdulaziz Medical City\u2010Riyadh, National Guard Health Affairs, King Abdullah International Medical Research Center (KAIMRC) King Saud Bin Abdulaziz University for Health Sciences  Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wendy K.","family":"Chung","sequence":"additional","affiliation":[{"name":"Departments of Pediatrics and Medicine Columbia University  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annemieke C.","family":"Heijboer","sequence":"additional","affiliation":[{"name":"Endocrine Laboratory, Department of Clinical Chemistry VU University Medical Center  Amsterdam The Netherlands"},{"name":"Laboratory of Endocrinology Academic Medical Center  Amsterdam the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wei Teik","family":"Keng","sequence":"additional","affiliation":[{"name":"Genetic Department Hospital Kuala Lumpur  Kuala Lumpur Malaysia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Risto","family":"Lapatto","sequence":"additional","affiliation":[{"name":"Children\u2019s Hospital University of Helsinki and Helsinki University Central Hospital  Helsinki Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patricia","family":"McClean","sequence":"additional","affiliation":[{"name":"Children\u2019s Liver Unit Leeds Teaching Hospitals NHS Trust  Leeds UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margot F.","family":"Mulder","sequence":"additional","affiliation":[{"name":"Department of Pediatrics VU University Medical Center  Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Tylki\u2010Szyma\u0144ska","sequence":"additional","affiliation":[{"name":"Department of Pediatric, Nutrition and Metabolic Disease The Children\u2019s Memorial Health Institute  Warsaw Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie\u2010Jose E.","family":"Walenkamp","sequence":"additional","affiliation":[{"name":"Department of Pediatrics VU University Medical Center  Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Majid","family":"Alfadhel","sequence":"additional","affiliation":[{"name":"King Abdulaziz Medical City\u2010Riyadh, National Guard Health Affairs, King Abdullah International Medical Research Center (KAIMRC) King Saud Bin Abdulaziz University for Health Sciences  Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hajar","family":"Alakeel","sequence":"additional","affiliation":[{"name":"King Abdulaziz Medical City\u2010Riyadh, National Guard Health Affairs, King Abdullah International Medical Research Center (KAIMRC) King Saud Bin Abdulaziz University for Health Sciences  Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gajja S.","family":"Salomons","sequence":"additional","affiliation":[{"name":"Metabolic Laboratory, Department of Clinical Chemistry Amsterdam Neuroscience, VU University Medical Center  Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wafaa","family":"Eyaid","sequence":"additional","affiliation":[{"name":"King Abdulaziz Medical City\u2010Riyadh, National Guard Health Affairs, King Abdullah International Medical Research Center (KAIMRC) King Saud Bin Abdulaziz University for Health Sciences  Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mirjam M. 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