Vitamin A deficiency in an infant with PAGOD syndrome
- PMID: 19760653
- DOI: 10.1002/ajmg.a.32998
Vitamin A deficiency in an infant with PAGOD syndrome
Abstract
PAGOD syndrome is a rare condition characterized by multiple congenital anomalies including pulmonary artery and lung hypoplasia, agonadism, diaphragmatic abnormalities, cardiac defects, omphalocele, and various genital anomalies. The etiology of this condition is unknown but the spectrum of birth defects is similar to the developmental anomalies observed in vitamin A deficiency animal models. We describe an infant with PAGOD syndrome phenotype. The patient had a normal male karyotype and no copy number changes were seen on chromosome genomic hybridization (CGH) microarray. Endocrine evaluation was consistent with primary hypogonadism. The testes and Müllerian structures were absent by imaging studies, raising the possibility of arrest of early gonadogenesis. The plasma free vitamin A was low, consistent with moderate to severe vitamin A deficiency; the maternal plasma vitamin A level was normal. During pregnancy maternal vitamin A is taken up by retinol binding protein 4 (RBP4) which is expressed in the embryonic visceral endoderm from pregastrulational stages. This transport is mediated via the specific membrane receptor for RBP, stimulated by retinoic acid 6 (STRA6). STRA6 is widely expressed in human organ systems including the placenta during embryonic development. Mutations in the STRA6 gene result in Matthew-Wood syndrome, which demonstrates significant phenotypic overlap with PAGOD syndrome. Sequencing of STRA6 coding regions in our patient, revealed no mutations. We present a case of PAGOD syndrome with a review of the literature, posing the hypothesis that a vitamin A metabolic defect, other than transport mediated by STRA6 receptor, might have an etiological role in the development of this multiple congenital anomalies syndrome.
Similar articles
-
Review of the phenotypic spectrum associated with haploinsufficiency of MYRF.Am J Med Genet A. 2019 Jul;179(7):1376-1382. doi: 10.1002/ajmg.a.61182. Epub 2019 May 8. Am J Med Genet A. 2019. PMID: 31069960 Free PMC article. Review.
-
Hypoplastic left heart syndrome in PAGOD syndrome.Pediatr Int. 2014 Jun;56(3):422-4. doi: 10.1111/ped.12280. Pediatr Int. 2014. PMID: 24894929
-
RBP4 disrupts vitamin A uptake homeostasis in a STRA6-deficient animal model for Matthew-Wood syndrome.Cell Metab. 2008 Mar;7(3):258-68. doi: 10.1016/j.cmet.2008.01.009. Cell Metab. 2008. PMID: 18316031 Free PMC article.
-
A case of PAGOD syndrome with hypoplastic left heart syndrome.Int J Cardiol. 2007 Jan 8;114(2):270-1. doi: 10.1016/j.ijcard.2005.11.068. Epub 2006 May 3. Int J Cardiol. 2007. PMID: 16675049 Review.
-
PAGOD syndrome: eighth case and comparison to animal models of congenital vitamin A deficiency.Am J Med Genet. 2002 Mar 15;108(3):229-34. doi: 10.1002/ajmg.10262. Am J Med Genet. 2002. PMID: 11891692 Review.
Cited by
-
Vitamin a supplementation during pregnancy in shaping child growth outcomes: A meta-analysis.Crit Rev Food Sci Nutr. 2023 Nov;63(33):12240-12255. doi: 10.1080/10408398.2022.2099810. Epub 2022 Jul 19. Crit Rev Food Sci Nutr. 2023. PMID: 35852163
-
Role of cellular retinol-binding protein, type 1 and retinoid homeostasis in the adult mouse heart: A multi-omic approach.FASEB J. 2022 Apr;36(4):e22242. doi: 10.1096/fj.202100901RRR. FASEB J. 2022. PMID: 35253263 Free PMC article.
-
Review of the phenotypic spectrum associated with haploinsufficiency of MYRF.Am J Med Genet A. 2019 Jul;179(7):1376-1382. doi: 10.1002/ajmg.a.61182. Epub 2019 May 8. Am J Med Genet A. 2019. PMID: 31069960 Free PMC article. Review.
-
Vitamin A Transport Mechanism of the Multitransmembrane Cell-Surface Receptor STRA6.Membranes (Basel). 2015 Aug 28;5(3):425-53. doi: 10.3390/membranes5030425. Membranes (Basel). 2015. PMID: 26343735 Free PMC article. Review.
-
Wnt and FGF mediated epithelial-mesenchymal crosstalk during lung development.Dev Dyn. 2015 Mar;244(3):342-66. doi: 10.1002/dvdy.24234. Epub 2014 Dec 29. Dev Dyn. 2015. PMID: 25470458 Free PMC article. Review.
Publication types
MeSH terms
LinkOut - more resources
Full Text Sources
Medical
Miscellaneous