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3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Clinical presentation and outcome in a series of 37 patients

Standard

3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Clinical presentation and outcome in a series of 37 patients. / Grünert, Sarah Catharina; Schlatter, Sonja Marina; Schmitt, Robert Niklas; Gemperle-Britschgi, Corinne; Mrázová, Lenka; Balcı, Mehmet Cihan; Bischof, Felix; Çoker, Mahmut; Das, Anibh M; Demirkol, Mübeccel; de Vries, Maaike; Gökçay, Gülden; Häberle, Johannes; Uçar, Sema Kalkan; Lotz-Havla, Amelie Sophia; Lücke, Thomas; Roland, Dominique; Rutsch, Frank; Santer, René; Schlune, Andrea; Staufner, Christian; Schwab, Karl Otfried; Mitchell, Grant A; Sass, Jörn Oliver.

in: MOL GENET METAB, Jahrgang 121, Nr. 3, 07.2017, S. 206-215.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

Grünert, SC, Schlatter, SM, Schmitt, RN, Gemperle-Britschgi, C, Mrázová, L, Balcı, MC, Bischof, F, Çoker, M, Das, AM, Demirkol, M, de Vries, M, Gökçay, G, Häberle, J, Uçar, SK, Lotz-Havla, AS, Lücke, T, Roland, D, Rutsch, F, Santer, R, Schlune, A, Staufner, C, Schwab, KO, Mitchell, GA & Sass, JO 2017, '3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Clinical presentation and outcome in a series of 37 patients', MOL GENET METAB, Jg. 121, Nr. 3, S. 206-215. https://doi.org/10.1016/j.ymgme.2017.05.014

APA

Grünert, S. C., Schlatter, S. M., Schmitt, R. N., Gemperle-Britschgi, C., Mrázová, L., Balcı, M. C., Bischof, F., Çoker, M., Das, A. M., Demirkol, M., de Vries, M., Gökçay, G., Häberle, J., Uçar, S. K., Lotz-Havla, A. S., Lücke, T., Roland, D., Rutsch, F., Santer, R., ... Sass, J. O. (2017). 3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Clinical presentation and outcome in a series of 37 patients. MOL GENET METAB, 121(3), 206-215. https://doi.org/10.1016/j.ymgme.2017.05.014

Vancouver

Grünert SC, Schlatter SM, Schmitt RN, Gemperle-Britschgi C, Mrázová L, Balcı MC et al. 3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Clinical presentation and outcome in a series of 37 patients. MOL GENET METAB. 2017 Jul;121(3):206-215. https://doi.org/10.1016/j.ymgme.2017.05.014

Bibtex

@article{369ec086865e412395dfd62bf4406ebd,
title = "3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Clinical presentation and outcome in a series of 37 patients",
abstract = "3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency (HMGCLD) is a rare inborn error of ketone body synthesis and leucine degradation, caused by mutations in the HMGCL gene. In order to obtain a comprehensive view on this disease, we have collected clinical and biochemical data as well as information on HMGCL mutations of 37 patients (35 families) from metabolic centers in Belgium, Germany, The Netherlands, Switzerland, and Turkey. All patients were symptomatic at some stage with 94% presenting with an acute metabolic decompensation. In 50% of the patients, the disorder manifested neonatally, mostly within the first days of life. Only 8% of patients presented after one year of age. Six patients died prior to data collection. Long-term neurological complications were common. Half of the patients had a normal cognitive development while the remainder showed psychomotor deficits. We identified seven novel HMGCL mutations. In agreement with previous reports, no clear genotype-phenotype correlation could be found. This is the largest cohort of HMGCLD patients reported so far, demonstrating that HMGCLD is a potentially life-threatening disease with variable clinical outcome. Our findings suggest that the clinical course of HMGCLD cannot be predicted accurately from HMGCL genotype. The overall outcome in HMGCLD appears limited, thus rendering early diagnosis and strict avoidance of metabolic crises important.",
keywords = "Acetyl-CoA C-Acetyltransferase/deficiency, Adolescent, Adult, Amino Acid Metabolism, Inborn Errors/complications, Belgium, Child, Child, Preschool, Fatty Acids/metabolism, Female, Genetic Association Studies, Germany, Humans, Infant, Ketone Bodies/metabolism, Leucine/metabolism, Male, Mutation, Netherlands, Oxo-Acid-Lyases/genetics, Patient Outcome Assessment, Switzerland, Turkey, Young Adult",
author = "Gr{\"u}nert, {Sarah Catharina} and Schlatter, {Sonja Marina} and Schmitt, {Robert Niklas} and Corinne Gemperle-Britschgi and Lenka Mr{\'a}zov{\'a} and Balcı, {Mehmet Cihan} and Felix Bischof and Mahmut {\c C}oker and Das, {Anibh M} and M{\"u}beccel Demirkol and {de Vries}, Maaike and G{\"u}lden G{\"o}k{\c c}ay and Johannes H{\"a}berle and U{\c c}ar, {Sema Kalkan} and Lotz-Havla, {Amelie Sophia} and Thomas L{\"u}cke and Dominique Roland and Frank Rutsch and Ren{\'e} Santer and Andrea Schlune and Christian Staufner and Schwab, {Karl Otfried} and Mitchell, {Grant A} and Sass, {J{\"o}rn Oliver}",
note = "Copyright {\textcopyright} 2017 Elsevier Inc. All rights reserved.",
year = "2017",
month = jul,
doi = "10.1016/j.ymgme.2017.05.014",
language = "English",
volume = "121",
pages = "206--215",
journal = "MOL GENET METAB",
issn = "1096-7192",
publisher = "Academic Press Inc.",
number = "3",

}

RIS

TY - JOUR

T1 - 3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Clinical presentation and outcome in a series of 37 patients

AU - Grünert, Sarah Catharina

AU - Schlatter, Sonja Marina

AU - Schmitt, Robert Niklas

AU - Gemperle-Britschgi, Corinne

AU - Mrázová, Lenka

AU - Balcı, Mehmet Cihan

AU - Bischof, Felix

AU - Çoker, Mahmut

AU - Das, Anibh M

AU - Demirkol, Mübeccel

AU - de Vries, Maaike

AU - Gökçay, Gülden

AU - Häberle, Johannes

AU - Uçar, Sema Kalkan

AU - Lotz-Havla, Amelie Sophia

AU - Lücke, Thomas

AU - Roland, Dominique

AU - Rutsch, Frank

AU - Santer, René

AU - Schlune, Andrea

AU - Staufner, Christian

AU - Schwab, Karl Otfried

AU - Mitchell, Grant A

AU - Sass, Jörn Oliver

N1 - Copyright © 2017 Elsevier Inc. All rights reserved.

PY - 2017/7

Y1 - 2017/7

N2 - 3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency (HMGCLD) is a rare inborn error of ketone body synthesis and leucine degradation, caused by mutations in the HMGCL gene. In order to obtain a comprehensive view on this disease, we have collected clinical and biochemical data as well as information on HMGCL mutations of 37 patients (35 families) from metabolic centers in Belgium, Germany, The Netherlands, Switzerland, and Turkey. All patients were symptomatic at some stage with 94% presenting with an acute metabolic decompensation. In 50% of the patients, the disorder manifested neonatally, mostly within the first days of life. Only 8% of patients presented after one year of age. Six patients died prior to data collection. Long-term neurological complications were common. Half of the patients had a normal cognitive development while the remainder showed psychomotor deficits. We identified seven novel HMGCL mutations. In agreement with previous reports, no clear genotype-phenotype correlation could be found. This is the largest cohort of HMGCLD patients reported so far, demonstrating that HMGCLD is a potentially life-threatening disease with variable clinical outcome. Our findings suggest that the clinical course of HMGCLD cannot be predicted accurately from HMGCL genotype. The overall outcome in HMGCLD appears limited, thus rendering early diagnosis and strict avoidance of metabolic crises important.

AB - 3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency (HMGCLD) is a rare inborn error of ketone body synthesis and leucine degradation, caused by mutations in the HMGCL gene. In order to obtain a comprehensive view on this disease, we have collected clinical and biochemical data as well as information on HMGCL mutations of 37 patients (35 families) from metabolic centers in Belgium, Germany, The Netherlands, Switzerland, and Turkey. All patients were symptomatic at some stage with 94% presenting with an acute metabolic decompensation. In 50% of the patients, the disorder manifested neonatally, mostly within the first days of life. Only 8% of patients presented after one year of age. Six patients died prior to data collection. Long-term neurological complications were common. Half of the patients had a normal cognitive development while the remainder showed psychomotor deficits. We identified seven novel HMGCL mutations. In agreement with previous reports, no clear genotype-phenotype correlation could be found. This is the largest cohort of HMGCLD patients reported so far, demonstrating that HMGCLD is a potentially life-threatening disease with variable clinical outcome. Our findings suggest that the clinical course of HMGCLD cannot be predicted accurately from HMGCL genotype. The overall outcome in HMGCLD appears limited, thus rendering early diagnosis and strict avoidance of metabolic crises important.

KW - Acetyl-CoA C-Acetyltransferase/deficiency

KW - Adolescent

KW - Adult

KW - Amino Acid Metabolism, Inborn Errors/complications

KW - Belgium

KW - Child

KW - Child, Preschool

KW - Fatty Acids/metabolism

KW - Female

KW - Genetic Association Studies

KW - Germany

KW - Humans

KW - Infant

KW - Ketone Bodies/metabolism

KW - Leucine/metabolism

KW - Male

KW - Mutation

KW - Netherlands

KW - Oxo-Acid-Lyases/genetics

KW - Patient Outcome Assessment

KW - Switzerland

KW - Turkey

KW - Young Adult

U2 - 10.1016/j.ymgme.2017.05.014

DO - 10.1016/j.ymgme.2017.05.014

M3 - SCORING: Journal article

C2 - 28583327

VL - 121

SP - 206

EP - 215

JO - MOL GENET METAB

JF - MOL GENET METAB

SN - 1096-7192

IS - 3

ER -