Combined isobutyryl-CoA and multiple acyl-CoA dehydrogenase deficiency in a boy with altered riboflavin homeostasis.
ACAD8
ETFDH
IBDD
MADD
RFVT2
riboflavin
Journal
JIMD reports
ISSN: 2192-8304
Titre abrégé: JIMD Rep
Pays: United States
ID NLM: 101568557
Informations de publication
Date de publication:
Jul 2022
Jul 2022
Historique:
received:
22
11
2021
revised:
07
04
2022
accepted:
12
04
2022
entrez:
13
7
2022
pubmed:
14
7
2022
medline:
14
7
2022
Statut:
epublish
Résumé
In this report, we describe the case of an 11-year-old boy, who came to our attention for myalgia and muscle weakness, associated with inappetence and vomiting. Hypertransaminasemia was also noted, with ultrasound evidence of hepatomegaly. Biochemical investigations revealed acylcarnitine and organic acid profiles resembling those seen in MADD, that is, multiple acyl-CoA dehydrogenase deficiencies (OMIM #231680) a rare inherited disorder of fatty acids, amino acids, and choline metabolism. The patient carried a single pathogenetic variant in the
Identifiants
pubmed: 35822092
doi: 10.1002/jmd2.12292
pii: JMD212292
pmc: PMC9259400
doi:
Types de publication
Case Reports
Langues
eng
Pagination
276-291Informations de copyright
© 2022 The Authors. JIMD Reports published by John Wiley & Sons Ltd on behalf of SSIEM.
Déclaration de conflit d'intérêts
The authors declare no conflicts of interest.
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