Fumaric aciduria

Also Known As:

Fumarase deficiency; Fumarate Hydratase Deficiency; Fumaricaciduria

Networked: 53 relevant articles (0 outcomes, 3 trials/studies)

Bio-Agent Context: Research Results

Enzymes and Coenzymes: 1
- Enzymes: 152586
  - Lyases: 637
    - Carbon-Oxygen Lyases
      - Hydro-Lyases: 266
        Fumarate Hydratase: 539
        Fumaric aciduria: 53
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Inborn Errors Metabolism: 1162
    - Fumaric aciduria: 53
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142
  - Inborn Errors Metabolism: 1162
    - Fumaric aciduria: 53
Nervous System Diseases: 14178
- Neurologic Manifestations: 7102
  - Neurobehavioral Manifestations: 1586
    - Psychomotor Disorders: 231
      - Fumaric aciduria: 53
  - Neuromuscular Manifestations: 23
    - Muscle Hypotonia: 1437
      - Fumaric aciduria: 53
Signs and Symptoms Pathological Conditions
- Signs and Symptoms
  - Neurologic Manifestations: 7102
    - Neurobehavioral Manifestations: 1586
      - Psychomotor Disorders: 231
        Fumaric aciduria: 53
    - Neuromuscular Manifestations: 23
      - Muscle Hypotonia: 1437
        Fumaric aciduria: 53
Behavior and Behavior Mechanisms
- Neurobehavioral Manifestations: 1586
  - Psychomotor Disorders: 231
    - Fumaric aciduria: 53

Experts

1.	Berkmen, Melanie B: 2 articles (01/2020 - 01/2018)
2.	Launonen, Virpi: 2 articles (11/2010 - 03/2008)
3.	Chen, G: 1 article (06/2022)
4.	Hu, D: 1 article (06/2022)
5.	Li, X H: 1 article (06/2022)
6.	Lin, J L: 1 article (06/2022)
7.	Lin, X D: 1 article (06/2022)
8.	Tian, R H: 1 article (06/2022)
9.	Wang, L: 1 article (06/2022)
10.	Weng, X Q: 1 article (06/2022)

Related Diseases

1.	Ataxia (Dyssynergia) 01/01/2023 - "In addition, patients who were carriers for factor XI deficiency, Bernard Soulier syndrome, ataxia telangectesia, fumarase deficiency, Nijmegen breakage syndrome, Duchenne muscular dystrophy, and familial hypercholesterolemia were advised to seek specialized healthcare pertaining to their clinical risk. " 01/01/2023 - "During the study period, 23 of 168 (13.6%) patients were heterozygous for specific pathogenic variants (inclusive of factor XI, Bernard Soulier syndrome, ataxia telangectesia, fumarase deficiency, Nijmegen breakage syndrome, Duchenne muscular dystrophy, and familial hypercholesterolemia) and were advised to seek specialized healthcare pertaining to these findings. Of these, 20 (87.0%) received genetic counseling with standardized recommendations, however, only 4 of 23 (17%) patients pursued the recommended referrals during our study period. " 01/01/2020 - "Our single-center study shows genetic sensory polyneuropathies associated with progressive neurodegenerative disorders such as mitochondrial ataxia, Friedreich ataxia, spinocerebellar ataxia type 2, ataxia telangiectasia, spastic paraplegia, giant axonal neuropathy, and fumarate hydratase deficiency. "
2.	Giant Axonal Neuropathy 01/01/2020 - "Our single-center study shows genetic sensory polyneuropathies associated with progressive neurodegenerative disorders such as mitochondrial ataxia, Friedreich ataxia, spinocerebellar ataxia type 2, ataxia telangiectasia, spastic paraplegia, giant axonal neuropathy, and fumarate hydratase deficiency. "
3.	Nijmegen Breakage Syndrome 01/01/2023 - "In addition, patients who were carriers for factor XI deficiency, Bernard Soulier syndrome, ataxia telangectesia, fumarase deficiency, Nijmegen breakage syndrome, Duchenne muscular dystrophy, and familial hypercholesterolemia were advised to seek specialized healthcare pertaining to their clinical risk. " 01/01/2023 - "During the study period, 23 of 168 (13.6%) patients were heterozygous for specific pathogenic variants (inclusive of factor XI, Bernard Soulier syndrome, ataxia telangectesia, fumarase deficiency, Nijmegen breakage syndrome, Duchenne muscular dystrophy, and familial hypercholesterolemia) and were advised to seek specialized healthcare pertaining to these findings. Of these, 20 (87.0%) received genetic counseling with standardized recommendations, however, only 4 of 23 (17%) patients pursued the recommended referrals during our study period. "
4.	Spinocerebellar Ataxias (Spinocerebellar Ataxia) 01/01/2020 - "Our single-center study shows genetic sensory polyneuropathies associated with progressive neurodegenerative disorders such as mitochondrial ataxia, Friedreich ataxia, spinocerebellar ataxia type 2, ataxia telangiectasia, spastic paraplegia, giant axonal neuropathy, and fumarate hydratase deficiency. "
5.	Duchenne Muscular Dystrophy (Muscular Dystrophy, Becker) 01/01/2023 - "In addition, patients who were carriers for factor XI deficiency, Bernard Soulier syndrome, ataxia telangectesia, fumarase deficiency, Nijmegen breakage syndrome, Duchenne muscular dystrophy, and familial hypercholesterolemia were advised to seek specialized healthcare pertaining to their clinical risk. " 01/01/2023 - "During the study period, 23 of 168 (13.6%) patients were heterozygous for specific pathogenic variants (inclusive of factor XI, Bernard Soulier syndrome, ataxia telangectesia, fumarase deficiency, Nijmegen breakage syndrome, Duchenne muscular dystrophy, and familial hypercholesterolemia) and were advised to seek specialized healthcare pertaining to these findings. Of these, 20 (87.0%) received genetic counseling with standardized recommendations, however, only 4 of 23 (17%) patients pursued the recommended referrals during our study period. "

Related Drugs and Biologics

1.	Factor XI (Plasma Thromboplastin Antecedent)
2.	Fumarate Hydratase (Fumarase)
3.	FHD
4.	Enzymes
5.	Aconitate Hydratase (Aconitase)
6.	Fumaric aciduria
7.	fumaric acid (sodium fumarate)
8.	Pyruvic Acid (Pyruvate)
9.	Reactive Oxygen Species (Oxygen Radicals)
10.	Transcription Factors (Transcription Factor)