Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency.
ALDH7A1
alpha aminoadipic semialdehyde
consensus guidelines
pyridoxine-dependent epilepsy
pyridoxine-responsive seizures
Journal
Journal of inherited metabolic disease
ISSN: 1573-2665
Titre abrégé: J Inherit Metab Dis
Pays: United States
ID NLM: 7910918
Informations de publication
Date de publication:
01 2021
01 2021
Historique:
received:
14
08
2020
revised:
21
10
2020
accepted:
13
11
2020
pubmed:
18
11
2020
medline:
24
12
2021
entrez:
17
11
2020
Statut:
ppublish
Résumé
Pyridoxine-dependent epilepsy (PDE-ALDH7A1) is an autosomal recessive condition due to a deficiency of α-aminoadipic semialdehyde dehydrogenase, which is a key enzyme in lysine oxidation. PDE-ALDH7A1 is a developmental and epileptic encephalopathy that was historically and empirically treated with pharmacologic doses of pyridoxine. Despite adequate seizure control, most patients with PDE-ALDH7A1 were reported to have developmental delay and intellectual disability. To improve outcome, a lysine-restricted diet and competitive inhibition of lysine transport through the use of pharmacologic doses of arginine have been recommended as an adjunct therapy. These lysine-reduction therapies have resulted in improved biochemical parameters and cognitive development in many but not all patients. The goal of these consensus guidelines is to re-evaluate and update the two previously published recommendations for diagnosis, treatment, and follow-up of patients with PDE-ALDH7A1. Members of the International PDE Consortium initiated evidence and consensus-based process to review previous recommendations, new research findings, and relevant clinical aspects of PDE-ALDH7A1. The guideline development group included pediatric neurologists, biochemical geneticists, clinical geneticists, laboratory scientists, and metabolic dieticians representing 29 institutions from 16 countries. Consensus guidelines for the diagnosis and management of patients with PDE-ALDH7A1 are provided.
Substances chimiques
Arginine
94ZLA3W45F
Aldehyde Dehydrogenase
EC 1.2.1.3
Lysine
K3Z4F929H6
Pyridoxine
KV2JZ1BI6Z
Types de publication
Journal Article
Practice Guideline
Research Support, Non-U.S. Gov't
Systematic Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
178-192Subventions
Organisme : Department of Health
Pays : United Kingdom
Informations de copyright
© 2020 SSIEM.
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