1. Clinical, biochemical, and molecular overview of transaldolase deficiency and evaluation of the endocrine function
- Author
-
Monique Williams, Vassili Valayannopoulos, Gajja S. Salomons, Majid Alfadhel, Anna Tylki-Szymańska, Hajar Alakeel, Wendy K. Chung, Mirjam M.C. Wamelink, Ruqaiah S. Al-Tassan, Marie-Jose E. Walenkamp, Risto Lapatto, Patricia McClean, Margot F. Mulder, Wei Teik Keng, Annemieke C. Heijboer, Wafaa Eyaid, AGEM - Inborn errors of metabolism, AGEM - Endocrinology, metabolism and nutrition, Laboratory Medicine, Amsterdam Reproduction & Development (AR&D), Amsterdam Movement Sciences - Rehabilitation & Development, Pediatric surgery, Other Research, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Endocrinology Laboratory, ARD - Amsterdam Reproduction and Development, Laboratory Genetic Metabolic Diseases, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, AMS - Musculoskeletal Health, Children's Hospital, Clinicum, University of Helsinki, and HUS Children and Adolescents
- Subjects
Male ,0301 basic medicine ,Pediatrics ,Cirrhosis ,Heart disease ,URINARY ,Intrauterine growth restriction ,DEHYDROEPIANDROSTERONE ,SERUM ,TESTOSTERONE ,Surveys and Questionnaires ,Child ,CIRRHOSIS ,Genetics (clinical) ,1184 Genetics, developmental biology, physiology ,FLUID ,LIVER-FAILURE ,3. Good health ,Phenotype ,Child, Preschool ,Female ,medicine.symptom ,Endocrine ,Carbohydrate Metabolism, Inborn Errors ,medicine.medical_specialty ,Genotype ,Anemia ,Urinary system ,Transaldolase deficiency ,POLYOLS ,Asymptomatic ,Diagnostic guideline ,03 medical and health sciences ,Genetics ,medicine ,Humans ,Endocrine system ,Pentose phosphate pathway ,Genetic Association Studies ,Retrospective Studies ,business.industry ,Infant, Newborn ,Infant ,ANDROSTENEDIONE ,medicine.disease ,Hormones ,Transaldolase ,MAINTENANCE ,030104 developmental biology ,3121 General medicine, internal medicine and other clinical medicine ,Endocrine Cells ,business - Abstract
BackgroundTransaldolase deficiency (TALDO-D) 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-genotype correlation. MethodsWe performed a retrospective questionnaire and literature study of clinical, biochemical, and molecular data of 34 patients from 25 families with proven TALDO-D. In some patients, endocrine abnormalities have been found. To further evaluate these abnormalities, we performed biochemical investigations on blood of 14 patients. Results and conclusionsMost patients (n =22) had an early-onset presentation (prenatally or before 1 month of age); 12 patients had a late-onset 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-stimulating 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-phenotype correlations, treatment options, and pathophysiological disease mechanisms are proposed.
- Published
- 2019