Case Reports
doi: 10.1007/s10545-011-9287-7.
Epub 2011 Feb 24.
Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: the clinical relevance of an early diagnosis and report of four new cases
Affiliations
- PMID: 21347589
- DOI: 10.1007/s10545-011-9287-7
Item in Clipboard
Case Reports
Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: the clinical relevance of an early diagnosis and report of four new cases
J Inherit Metab Dis.
2011 Jun.
Abstract
Short-chain 3-hydroxyacyl-CoA dehydrogenase (HADH, SCHAD) deficiency (OMIM #231530) represents a recently described disorder of mitochondrial fatty acid beta-oxidation, with less than ten cases described worldwide. The main clinical presentation of this metabolic disease is different from other inherited defects of fatty acid β-oxidation as the hypoglycemia is associated with hyperinsulinism. We present the clinical, biochemical and molecular findings of four new Caucasian patients with HADH deficiency. These new cases contribute to a more comprehensive description of the phenotype, diagnostic biomarkers and treatment options for this poorly defined disease.
Similar articles
-
A Deep Intronic HADH Splicing Mutation (c.636+471G>T) in a Congenital Hyperinsulinemic Hypoglycemia Case: Long Term Clinical Course.J Clin Res Pediatr Endocrinol. 2015 Jun;7(2):144-7. doi: 10.4274/jcrpe.1963. J Clin Res Pediatr Endocrinol. 2015. PMID: 26316438 Free PMC article.
-
Diagnosis of a patient with a kinetic variant of medium and short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency by newborn screening.Mol Genet Metab. 2012 Jul;106(3):277-80. doi: 10.1016/j.ymgme.2012.04.005. Epub 2012 Apr 13. Mol Genet Metab. 2012. PMID: 22579592
-
[Long chain 3-hydroxyacyl-coA dehydrogenase deficiency, association with HELLP and magnetic resonance spectroscopy findings].Arch Argent Pediatr. 2012 Aug;110(4):e63-6. doi: 10.5546/aap.2012.e63. Arch Argent Pediatr. 2012. PMID: 22859334 Spanish.
-
Novel insights into fatty acid oxidation, amino acid metabolism, and insulin secretion from studying patients with loss of function mutations in 3-hydroxyacyl-CoA dehydrogenase.J Clin Endocrinol Metab. 2013 Feb;98(2):496-501. doi: 10.1210/jc.2012-3134. Epub 2012 Dec 18. J Clin Endocrinol Metab. 2013. PMID: 23253615 Review.
-
Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency associated with hyperinsulinism: a novel glucose-fatty acid cycle?Biochem Soc Trans. 2003 Dec;31(Pt 6):1137-9. doi: 10.1042/bst0311137. Biochem Soc Trans. 2003. PMID: 14641012 Review.
Cited by
-
Genetic pathogenesis, diagnosis, and treatment of short-chain 3-hydroxyacyl-coenzyme A dehydrogenase hyperinsulinism.Orphanet J Rare Dis. 2021 Nov 4;16(1):467. doi: 10.1186/s13023-021-02088-6. Orphanet J Rare Dis. 2021. PMID: 34736508 Free PMC article. Review.
-
High resolution mass spectrometry newborn screening applications for quantitative analysis of amino acids and acylcarnitines from dried blood spots.Anal Chim Acta. 2020 Jul 11;1120:85-96. doi: 10.1016/j.aca.2020.04.067. Epub 2020 Apr 28. Anal Chim Acta. 2020. PMID: 32475395 Free PMC article.
-
The Genetic and Molecular Mechanisms of Congenital Hyperinsulinism.Front Endocrinol (Lausanne). 2019 Feb 26;10:111. doi: 10.3389/fendo.2019.00111. eCollection 2019. Front Endocrinol (Lausanne). 2019. PMID: 30873120 Free PMC article. Review.
-
Fatty acid oxidation disorders.Ann Transl Med. 2018 Dec;6(24):473. doi: 10.21037/atm.2018.10.57. Ann Transl Med. 2018. PMID: 30740404 Free PMC article. Review.
-
Genome-scale identification of microRNA-related SNPs associated with risk of head and neck squamous cell carcinoma.Carcinogenesis. 2017 Oct 1;38(10):986-993. doi: 10.1093/carcin/bgx056. Carcinogenesis. 2017. PMID: 28582492 Free PMC article.
References
Publication types
MeSH terms
Substances
Supplementary concepts
LinkOut - more resources
Full Text Sources
Miscellaneous
