Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency

被引：71

作者：

Coughlin, Curtis R., II ^{[1
]}

Tseng, Laura A. ^{[2
]}

Abdenur, Jose E. ^{[3
]}

Ashmore, Catherine ^{[4
]}

Boemer, Francois ^{[5
]}

Bok, Levinus A. ^{[6
]}

Boyer, Monica ^{[3
]}

Buhas, Daniela ^{[7
]}

Clayton, Peter T. ^{[8
]}

Das, Anibh ^{[9
]}

Dekker, Hanka ^{[10
]}

Evangeliou, Athanasios ^{[11
]}

Feillet, Francois ^{[12
,13
]}

Footitt, Emma J. ^{[14
]}

Gospe, Sidney M., Jr. ^{[15
,16
,17
]}

Hartmann, Hans ^{[9
]}

Kara, Majdi ^{[18
]}

Kristensen, Erle ^{[19
]}

Lee, Joy ^{[20
]}

Lilje, Rina ^{[21
]}

Longo, Nicola ^{[22
]}

Lunsing, Roelineke J. ^{[23
]}

Mills, Philippa ^{[8
]}

Papadopoulou, Maria T. ^{[11
]}

Pearl, Phillip L. ^{[24
]}

Piazzon, Flavia ^{[25
]}

Plecko, Barbara ^{[26
]}

Saini, Arushi G. ^{[27
]}

Santra, Saikat ^{[4
]}

Sjarif, Damayanti R. ^{[28
]}

Stockler-Ipsiroglu, Sylvia ^{[29
]}

Striano, Pasquale ^{[30
,31
]}

Van Hove, Johan L. K. ^{[1
]}

Verhoeven-Duif, Nanda M. ^{[32
]}

Wijburg, Frits A. ^{[2
]}

Zuberi, Sameer M. ^{[33
,34
]}

van Karnebeek, Clara D. M. ^{[2
,35
]}

机构：

[1] Univ Colorado, Dept Pediat, Sect Clin Genet & Metab, Anschutz Med Campus, Aurora, CO 80045 USA

[2] Univ Amsterdam, Dept Pediat, Med Ctr, Emma Childrens Hosp, Amsterdam, Netherlands

[3] CHOC Childrens Hosp, Div Metab Disorders, Orange, CA USA

[4] Birmingham Womens & Childrens NHS Fdn Trust, Birmingham, W Midlands, England

[5] Ctr Hosp Univ Sart Tilman, Dept Human Genet, Liege, Belgium

[6] Maxima Med Ctr, Dept Pediat & Neonatol, Veldhoven, Netherlands

[7] McGill Univ, Montreal Childrens Hosp, Div Med Genet, Dept Specialized Med,Hlth Ctr, Quebec City, PQ, Canada

[8] UCL Great Ormond St Inst Child Hlth, Genet & Genom Med, London, England

[9] Hannover Med Sch, Clin Paediat Kidney Liver & Metab Dis, Hannover, Germany

[10] VKS Dutch Patient Org Metab Dis, Zwolle, Netherlands

[11] Aristotle Univ Thessaloniki, Gen Hosp Papageorgiou, Dept Pediat 4, Div Child Neurol & Inherited Metab Disorders, Thessaloniki, Greece

[12] Univ Hosp Nancy, Pediat Unit, Reference Ctr Inborn Errors Metab, Nancy, France

[13] Univ Lorraine, Fac Med Nancy, Nutr Genet & Environm Risk Exposure NGERE, INSERM UMR S 1256, Nancy, France

[14] Great Ormond St Hosp Sick Children, Dept Metab Paediat, London, England

[15] Univ Washington, Dept Neurol, Div Pediat Neurol, Seattle, WA 98195 USA

[16] Univ Washington, Dept Pediat, Div Pediat Neurol, Seattle, WA 98195 USA

[17] Duke Univ, Dept Pediat, Durham, NC 27706 USA

[18] Univ Tripoli, Dept Pediat, Tripoli, Libya

[19] Oslo Univ Hosp, Dept Children & Adolescent Med, Natl Management Newborn Screening & Adv Lab Diagn, Oslo, Norway

[20] Royal Childrens Hosp, Dept Metab Med, Melbourne, Vic, Australia

[21] Oslo Univ Hosp, Dept Children & Adolescent Med, Oslo, Norway

[22] Univ Utah, Dept Pediat, Div Med Genet, Salt Lake City, UT USA

[23] Univ Groningen, Univ Med Ctr Groningen, Dept Neurol, Groningen, Netherlands

[24] Harvard Med Sch, Dept Neurol, Boston Childrens Hosp, Div Epilepsy & Clin Neurophysiol, Boston, MA 02115 USA

[25] Univ Sao Paulo, Childrens Inst, Neurometab Clin, Sao Paulo, Brazil

[26] Med Univ Graz, Dept Pediat & Adolescent Med, Div Gen Pediat, Graz, Austria

[27] Postgrad Inst Med Educ & Res, Dept Pediat, Pediat Neurol Unit, Chandigarh, India

[28] Univ Indonesia, Dept Child Hlth, Fac Med, Jakarta, Indonesia

[29] Univ British Columbia, BC Childrens Hosp, Div Biochem Genet, Vancouver, BC, Canada

[30] IRCCS G Gaslini Inst, Pediat Neurol & Muscular Dis Unit, Genoa, Italy

[31] Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, Italy

[32] Univ Med Ctr Utrecht, Dept Genet, Utrecht, Netherlands

[33] Univ Glasgow, Royal Hosp Children, Paediat Neurosci Res Grp, Glasgow, Lanark, Scotland

[34] Univ Glasgow, Sch Med, Glasgow, Lanark, Scotland

[35] Radboud Univ Nijmegen, Amalia Childrens Hosp, Radboud Ctr Mitochondrial Med, Dept Pediat,Med Ctr, Nijmegen, Netherlands

来源：

JOURNAL OF INHERITED METABOLIC DISEASE | 2021年 / 44卷 / 01期

关键词：

alpha aminoadipic semialdehyde; consensus guidelines; pyridoxine‐ dependent epilepsy; responsive seizures; MOLYBDENUM COFACTOR DEFICIENCY; HOMOZYGOUS MISSENSE MUTATION; DIETARY LYSINE RESTRICTION; ACID-RESPONSIVE SEIZURES; ARGININE SUPPLEMENTATION; PIPECOLIC ACID; ANTIQUITIN DEFICIENCY; ALDH7A1; FEATURES; EPIDEMIOLOGY;

D O I：

10.1002/jimd.12332

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Pyridoxine-dependent epilepsy (PDE-ALDH7A1) is an autosomal recessive condition due to a deficiency of alpha-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.

引用

页码：178 / 192

页数：15

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