Dystonia and deafness due to SUCLA2 defect; Clinical course and biochemical markers in 16 children

Eva Morava-Kozicz, Ulrike Steuerwald, Rosalba Carrozzo, Leo A J Kluijtmans, Frodi Joensen, René Santer, Carlo Dionisi-Vici, Ron A. Wevers

Research output: Contribution to journalArticle

36 Citations (Scopus)

Abstract

Patients with SUCLA2 gene defects characteristically develop the trias of early hypotonia, progressive dystonia and sensori-neural deafness. We describe the clinical course and biochemical phenotype in 16 children from the Faroe Islands with a homozygous SUCLA2 splice site mutation. Elevated urinary 3-hydroxyisovaleric acid is a novel biochemical feature in patients. Progressive hearing loss, in combination with a characteristic metabolite profile (increased lactate, methylmalonic acid, C4-dicarboxylic carnitine, 3-hydroxyisovaleric acid) should lead the clinician to the correct diagnosis even in patients with only intermittent lactic acidemia. Direct SUCLA2 sequence analysis is suggested instead of an invasive muscle biopsy to obtain the diagnosis. Nutritional intervention may be considered in SUCLA2 patients.

Original languageEnglish (US)
Pages (from-to)438-442
Number of pages5
JournalMitochondrion
Volume9
Issue number6
DOIs
StatePublished - Nov 1 2009
Externally publishedYes

Fingerprint

Dystonia
Deafness
Biomarkers
Methylmalonic Acid
Muscle Hypotonia
Carnitine
Denmark
Hearing Loss
Sequence Analysis
Lactic Acid
Milk
Phenotype
Biopsy
Muscles
Mutation
Genes
beta-hydroxyisovaleric acid

Keywords

  • 3-Hydroxyisovaleric acid
  • Citric acid cycle
  • Leigh-like encephalomyopathy
  • Methylmalonic aciduria
  • Mitochondrial DNA depletion
  • Succinyl-CoA synthase

ASJC Scopus subject areas

  • Cell Biology
  • Molecular Biology
  • Molecular Medicine

Cite this

Morava-Kozicz, E., Steuerwald, U., Carrozzo, R., Kluijtmans, L. A. J., Joensen, F., Santer, R., ... Wevers, R. A. (2009). Dystonia and deafness due to SUCLA2 defect; Clinical course and biochemical markers in 16 children. Mitochondrion, 9(6), 438-442. https://doi.org/10.1016/j.mito.2009.08.003

Dystonia and deafness due to SUCLA2 defect; Clinical course and biochemical markers in 16 children. / Morava-Kozicz, Eva; Steuerwald, Ulrike; Carrozzo, Rosalba; Kluijtmans, Leo A J; Joensen, Frodi; Santer, René; Dionisi-Vici, Carlo; Wevers, Ron A.

In: Mitochondrion, Vol. 9, No. 6, 01.11.2009, p. 438-442.

Research output: Contribution to journalArticle

Morava-Kozicz, E, Steuerwald, U, Carrozzo, R, Kluijtmans, LAJ, Joensen, F, Santer, R, Dionisi-Vici, C & Wevers, RA 2009, 'Dystonia and deafness due to SUCLA2 defect; Clinical course and biochemical markers in 16 children', Mitochondrion, vol. 9, no. 6, pp. 438-442. https://doi.org/10.1016/j.mito.2009.08.003
Morava-Kozicz, Eva ; Steuerwald, Ulrike ; Carrozzo, Rosalba ; Kluijtmans, Leo A J ; Joensen, Frodi ; Santer, René ; Dionisi-Vici, Carlo ; Wevers, Ron A. / Dystonia and deafness due to SUCLA2 defect; Clinical course and biochemical markers in 16 children. In: Mitochondrion. 2009 ; Vol. 9, No. 6. pp. 438-442.
@article{adaa23a940f94fceb30ea7fadc9c665f,
title = "Dystonia and deafness due to SUCLA2 defect; Clinical course and biochemical markers in 16 children",
abstract = "Patients with SUCLA2 gene defects characteristically develop the trias of early hypotonia, progressive dystonia and sensori-neural deafness. We describe the clinical course and biochemical phenotype in 16 children from the Faroe Islands with a homozygous SUCLA2 splice site mutation. Elevated urinary 3-hydroxyisovaleric acid is a novel biochemical feature in patients. Progressive hearing loss, in combination with a characteristic metabolite profile (increased lactate, methylmalonic acid, C4-dicarboxylic carnitine, 3-hydroxyisovaleric acid) should lead the clinician to the correct diagnosis even in patients with only intermittent lactic acidemia. Direct SUCLA2 sequence analysis is suggested instead of an invasive muscle biopsy to obtain the diagnosis. Nutritional intervention may be considered in SUCLA2 patients.",
keywords = "3-Hydroxyisovaleric acid, Citric acid cycle, Leigh-like encephalomyopathy, Methylmalonic aciduria, Mitochondrial DNA depletion, Succinyl-CoA synthase",
author = "Eva Morava-Kozicz and Ulrike Steuerwald and Rosalba Carrozzo and Kluijtmans, {Leo A J} and Frodi Joensen and Ren{\'e} Santer and Carlo Dionisi-Vici and Wevers, {Ron A.}",
year = "2009",
month = "11",
day = "1",
doi = "10.1016/j.mito.2009.08.003",
language = "English (US)",
volume = "9",
pages = "438--442",
journal = "Mitochondrion",
issn = "1567-7249",
publisher = "Elsevier",
number = "6",

}

TY - JOUR

T1 - Dystonia and deafness due to SUCLA2 defect; Clinical course and biochemical markers in 16 children

AU - Morava-Kozicz, Eva

AU - Steuerwald, Ulrike

AU - Carrozzo, Rosalba

AU - Kluijtmans, Leo A J

AU - Joensen, Frodi

AU - Santer, René

AU - Dionisi-Vici, Carlo

AU - Wevers, Ron A.

PY - 2009/11/1

Y1 - 2009/11/1

N2 - Patients with SUCLA2 gene defects characteristically develop the trias of early hypotonia, progressive dystonia and sensori-neural deafness. We describe the clinical course and biochemical phenotype in 16 children from the Faroe Islands with a homozygous SUCLA2 splice site mutation. Elevated urinary 3-hydroxyisovaleric acid is a novel biochemical feature in patients. Progressive hearing loss, in combination with a characteristic metabolite profile (increased lactate, methylmalonic acid, C4-dicarboxylic carnitine, 3-hydroxyisovaleric acid) should lead the clinician to the correct diagnosis even in patients with only intermittent lactic acidemia. Direct SUCLA2 sequence analysis is suggested instead of an invasive muscle biopsy to obtain the diagnosis. Nutritional intervention may be considered in SUCLA2 patients.

AB - Patients with SUCLA2 gene defects characteristically develop the trias of early hypotonia, progressive dystonia and sensori-neural deafness. We describe the clinical course and biochemical phenotype in 16 children from the Faroe Islands with a homozygous SUCLA2 splice site mutation. Elevated urinary 3-hydroxyisovaleric acid is a novel biochemical feature in patients. Progressive hearing loss, in combination with a characteristic metabolite profile (increased lactate, methylmalonic acid, C4-dicarboxylic carnitine, 3-hydroxyisovaleric acid) should lead the clinician to the correct diagnosis even in patients with only intermittent lactic acidemia. Direct SUCLA2 sequence analysis is suggested instead of an invasive muscle biopsy to obtain the diagnosis. Nutritional intervention may be considered in SUCLA2 patients.

KW - 3-Hydroxyisovaleric acid

KW - Citric acid cycle

KW - Leigh-like encephalomyopathy

KW - Methylmalonic aciduria

KW - Mitochondrial DNA depletion

KW - Succinyl-CoA synthase

UR - http://www.scopus.com/inward/record.url?scp=70449123640&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=70449123640&partnerID=8YFLogxK

U2 - 10.1016/j.mito.2009.08.003

DO - 10.1016/j.mito.2009.08.003

M3 - Article

C2 - 19666145

AN - SCOPUS:70449123640

VL - 9

SP - 438

EP - 442

JO - Mitochondrion

JF - Mitochondrion

SN - 1567-7249

IS - 6

ER -