Clinical, biochemical, and molecular overview of transaldolase deficiency and evaluation of the endocrine function: update of 34 patients

Monique Williams, Vassili Valayannopoulos, Ruqaiah Altassan, Wendy K. Chung, Annemieke C. Heijboer, Wei Teik Keng, Risto Lapatto, Patricia McClean, Margot F. Mulder, Anna Tylki-Szymańska, Marie-Jose E. Walenkamp, Majid Alfadhel, Hajar Alakeel, Gajja S. Salomons, Wafaa Eyaid, Mirjam M. C. Wamelink

Research output: Contribution to journalArticleAcademicpeer-review

Abstract

BACKGROUND: Transaldolase 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. METHODS: We 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 CONCLUSIONS: Most 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.
LanguageEnglish
Pages147-158
JournalJournal of Inherited Metabolic Disease
Volume42
Issue number1
Early online date2 May 2018
DOIs
Publication statusPublished - 2019

Cite this

Williams, Monique ; Valayannopoulos, Vassili ; Altassan, Ruqaiah ; Chung, Wendy K. ; Heijboer, Annemieke C. ; Keng, Wei Teik ; Lapatto, Risto ; McClean, Patricia ; Mulder, Margot F. ; Tylki-Szymańska, Anna ; Walenkamp, Marie-Jose E. ; Alfadhel, Majid ; Alakeel, Hajar ; Salomons, Gajja S. ; Eyaid, Wafaa ; Wamelink, Mirjam M. C. / Clinical, biochemical, and molecular overview of transaldolase deficiency and evaluation of the endocrine function : update of 34 patients. In: Journal of Inherited Metabolic Disease. 2019 ; Vol. 42, No. 1. pp. 147-158.
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title = "Clinical, biochemical, and molecular overview of transaldolase deficiency and evaluation of the endocrine function: update of 34 patients",
abstract = "BACKGROUND: Transaldolase 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. METHODS: We 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 CONCLUSIONS: Most 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.",
author = "Monique Williams and Vassili Valayannopoulos and Ruqaiah Altassan and Chung, {Wendy K.} and Heijboer, {Annemieke C.} and Keng, {Wei Teik} and Risto Lapatto and Patricia McClean and Mulder, {Margot F.} and Anna Tylki-Szymańska and Walenkamp, {Marie-Jose E.} and Majid Alfadhel and Hajar Alakeel and Salomons, {Gajja S.} and Wafaa Eyaid and Wamelink, {Mirjam M. C.}",
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Clinical, biochemical, and molecular overview of transaldolase deficiency and evaluation of the endocrine function : update of 34 patients. / Williams, Monique; Valayannopoulos, Vassili; Altassan, Ruqaiah; Chung, Wendy K.; Heijboer, Annemieke C.; Keng, Wei Teik; Lapatto, Risto; McClean, Patricia; Mulder, Margot F.; Tylki-Szymańska, Anna; Walenkamp, Marie-Jose E.; Alfadhel, Majid; Alakeel, Hajar; Salomons, Gajja S.; Eyaid, Wafaa; Wamelink, Mirjam M. C.

In: Journal of Inherited Metabolic Disease, Vol. 42, No. 1, 2019, p. 147-158.

Research output: Contribution to journalArticleAcademicpeer-review

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T1 - Clinical, biochemical, and molecular overview of transaldolase deficiency and evaluation of the endocrine function

T2 - Journal of Inherited Metabolic Disease

AU - Williams, Monique

AU - Valayannopoulos, Vassili

AU - Altassan, Ruqaiah

AU - Chung, Wendy K.

AU - Heijboer, Annemieke C.

AU - Keng, Wei Teik

AU - Lapatto, Risto

AU - McClean, Patricia

AU - Mulder, Margot F.

AU - Tylki-Szymańska, Anna

AU - Walenkamp, Marie-Jose E.

AU - Alfadhel, Majid

AU - Alakeel, Hajar

AU - Salomons, Gajja S.

AU - Eyaid, Wafaa

AU - Wamelink, Mirjam M. C.

PY - 2019

Y1 - 2019

N2 - BACKGROUND: Transaldolase 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. METHODS: We 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 CONCLUSIONS: Most 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.

AB - BACKGROUND: Transaldolase 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. METHODS: We 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 CONCLUSIONS: Most 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.

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UR - https://www.ncbi.nlm.nih.gov/pubmed/30740741

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