Disease on EC 6.2.1.5 - succinate-CoA ligase (ADP-forming)
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Acidosis, Lactic
Neonatal lactic acidosis with methylmalonic aciduria by novel mutations in the SUCLG1 gene.
Acidosis, Lactic
Succinyl-CoA synthetase (SUCLA2) deficiency in two siblings with impaired activity of other mitochondrial oxidative enzymes in skeletal muscle without mitochondrial DNA depletion.
Acidosis, Lactic
SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness.
Anemia, Sideroblastic
Interaction between succinyl CoA synthetase and the heme-biosynthetic enzyme ALAS-E is disrupted in sideroblastic anemia.
Cardiomyopathy, Hypertrophic
Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients.
Crohn Disease
Influences of XDH genotype by gene-gene interactions with SUCLA2 for thiopurine-induced leukopenia in Korean patients with Crohn's disease.
Deafness
Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy.
Deafness
Dystonia and deafness due to SUCLA2 defect; Clinical course and biochemical markers in 16 children.
Deafness
SUCLA2 Arg407Trp mutation can cause a nonprogressive movement disorder - deafness syndrome.
Deafness
SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness.
Down Syndrome
Co-occurring Down syndrome and SUCLA2-related mitochondrial depletion syndrome.
Dystonia
Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy.
Dystonia
Dystonia and deafness due to SUCLA2 defect; Clinical course and biochemical markers in 16 children.
Dystonia
SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness.
Epilepsy
Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients.
Leukopenia
Influences of XDH genotype by gene-gene interactions with SUCLA2 for thiopurine-induced leukopenia in Korean patients with Crohn's disease.
Mitochondrial Diseases
Mitochondrial encephalomyopathy and retinoblastoma explained by compound heterozygosity of SUCLA2 point mutation and 13q14 deletion.
Mitochondrial Diseases
SUCLA2 mutations cause global protein succinylation contributing to the pathomechanism of a hereditary mitochondrial disease.
Mitochondrial Diseases
[Diagnosis of mitochondrial disorders in children with next generation sequencing].
Mitochondrial Encephalomyopathies
Expanding the phenotypic spectrum of Succinyl-CoA ligase deficiency through functional validation of a new SUCLG1 variant.
Mitochondrial Encephalomyopathies
Mitochondrial encephalomyopathy and retinoblastoma explained by compound heterozygosity of SUCLA2 point mutation and 13q14 deletion.
Mitochondrial Encephalomyopathies
Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutations.
Movement Disorders
A Novel SUCLA2 Mutation Presenting as a Complex Childhood Movement Disorder.
Movement Disorders
SUCLA2 Arg407Trp mutation can cause a nonprogressive movement disorder - deafness syndrome.
Muscle Hypotonia
A Novel SUCLA2 Mutation Presenting as a Complex Childhood Movement Disorder.
Muscle Hypotonia
Dystonia and deafness due to SUCLA2 defect; Clinical course and biochemical markers in 16 children.
Muscle Hypotonia
Mitochondrial DNA Depletion Syndromes: Review and Updates of Genetic Basis, Manifestations, and Therapeutic Options.
nadh:ubiquinone reductase (h+-translocating) deficiency
Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy.
Porphyrias, Hepatic
Physiological roles of animal succinate thiokinases. Specific association of the guanine nucleotide-linked enzyme with haem biosynthesis.
Prostatic Neoplasms
Pharmacologically targetable vulnerability in prostate cancer carrying RB1-SUCLA2 deletion.
Retinoblastoma
Mitochondrial encephalomyopathy and retinoblastoma explained by compound heterozygosity of SUCLA2 point mutation and 13q14 deletion.
succinate-coa ligase (adp-forming) deficiency
SUCLA2 Deficiency: A Deafness-Dystonia Syndrome with Distinctive Metabolic Findings (Report of a New Patient and Review of the Literature).
succinate-coa ligase (gdp-forming) deficiency
Novel mutation in SUCLA2 identified on sequencing analysis.
succinate-coa ligase (gdp-forming) deficiency
Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients.
succinate-coa ligase (gdp-forming) deficiency
SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness.
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