A novel
Atypical maculopathy
Cardiomyopathy
HADHA
LCHAD
Late-onset
Mitochondrial trifunctional protein MTP
Journal
Molecular genetics and metabolism reports
ISSN: 2214-4269
Titre abrégé: Mol Genet Metab Rep
Pays: United States
ID NLM: 101624422
Informations de publication
Date de publication:
Jun 2022
Jun 2022
Historique:
received:
05
10
2021
revised:
06
03
2022
accepted:
07
03
2022
entrez:
5
7
2022
pubmed:
6
7
2022
medline:
6
7
2022
Statut:
epublish
Résumé
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a rare inherited disease caused by pathogenic variants of Clinical features were described with medical explorations including ophthalmic and cardiac examination. Biological underlying defects were investigated by measurements of biochemical metabolites and by fluxomic studies of mitochondrial β-oxidation. Whole exome sequencing and molecular validation of variants confirmed the diagnosis. The patient has developed at nine years an unlabeled maculopathy, and at 28 years, an acute cardiac decompensation without any premise. Blood individual acylcarnitine analysis showed a rise in hydroxylated long-chain fatty acids and fluxomic studies validated enzyme blockade consistent with LCHADD. Genetic analysis revealed the common p.(Glu510Gln) variant in This atypical LCHADD form report should encourage the early assessment of biochemical and genetic testing as a specific management is recommended (combination with fast avoidance, low fat-high carbohydrate diet, medium-even-chain triglycerides or triheptanoin supplementation).
Sections du résumé
Background
UNASSIGNED
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a rare inherited disease caused by pathogenic variants of
Methods
UNASSIGNED
Clinical features were described with medical explorations including ophthalmic and cardiac examination. Biological underlying defects were investigated by measurements of biochemical metabolites and by fluxomic studies of mitochondrial β-oxidation. Whole exome sequencing and molecular validation of variants confirmed the diagnosis.
Results
UNASSIGNED
The patient has developed at nine years an unlabeled maculopathy, and at 28 years, an acute cardiac decompensation without any premise. Blood individual acylcarnitine analysis showed a rise in hydroxylated long-chain fatty acids and fluxomic studies validated enzyme blockade consistent with LCHADD. Genetic analysis revealed the common p.(Glu510Gln) variant in
Conclusion
UNASSIGNED
This atypical LCHADD form report should encourage the early assessment of biochemical and genetic testing as a specific management is recommended (combination with fast avoidance, low fat-high carbohydrate diet, medium-even-chain triglycerides or triheptanoin supplementation).
Identifiants
pubmed: 35782617
doi: 10.1016/j.ymgmr.2022.100860
pii: S2214-4269(22)00020-9
pmc: PMC9248219
doi:
Types de publication
Journal Article
Langues
eng
Pagination
100860Informations de copyright
© 2022 The Authors.
Déclaration de conflit d'intérêts
No conflicting relationship exists for any author.
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