Fumarase deficiency
- Synonyms
- Fumarate Hydratase Deficiency; Fumaric aciduria
- Modes of inheritance
- Autosomal recessive inheritance (Orphanet)
Summary
Excerpted from the GeneReview:- Full text of GeneReview (by section):
- Summary
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- References
- Chapter Notes
- Authors:
- David Coman
- Kamil R Kranc
- John Christodoulou
- view full author information
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (90 available)
Biochemical Genetics Tests
Clinical features
Help- Abnormal cellular phenotype
- Mitochondrial swelling
Mitochondrial swelling
- MedGen UID: 7664
- Concept ID: C0026244
- Finding: Cell or Molecular Dysfunction
Abnormal cellular phenotype
- Mitochondrial swelling
- Abnormality of blood and blood-forming tissues
- Polycythemia
Polycythemia
- MedGen UID: 18552
- Concept ID: C0032461
- Finding: Disease or Syndrome
Abnormality of blood and blood-forming tissues
- Polycythemia
- Abnormality of head or neck
- Anteverted nares
Anteverted nares
- MedGen UID: 326648
- Concept ID: C1840077
- Finding: Finding
Abnormality of head or neck
- Conjunctival icterus
Conjunctival icterus
- MedGen UID: 537025
- Concept ID: C0240962
- Finding: Finding
Abnormality of head or neck
- Depressed nasal bridge
Depressed nasal bridge
- MedGen UID: 373112
- Concept ID: C1836542
- Finding: Finding
Abnormality of head or neck
- High palate
High palate
- MedGen UID: 66814
- Concept ID: C0240635
- Finding: Congenital Abnormality
Abnormality of head or neck
- Anteverted nares
- Abnormality of metabolism/homeostasis
- Decreased fumarate hydratase activity
Decreased fumarate hydratase activity
- MedGen UID: 343007
- Concept ID: C1853903
- Finding: Finding
Abnormality of metabolism/homeostasis
- Hyperbilirubinemia
Hyperbilirubinemia
- MedGen UID: 86321
- Concept ID: C0311468
- Finding: Finding
Abnormality of metabolism/homeostasis
- Lactic acidosis
Lactic acidosis
- MedGen UID: 1717
- Concept ID: C0001125
- Finding: Disease or Syndrome
Abnormality of metabolism/homeostasis
- Metabolic acidosis
Metabolic acidosis
- MedGen UID: 65117
- Concept ID: C0220981
- Finding: Pathologic Function
Abnormality of metabolism/homeostasis
- Decreased fumarate hydratase activity
- Abnormality of prenatal development or birth
- Bilateral fetal pyelectasis
Bilateral fetal pyelectasis
- MedGen UID: 869105
- Concept ID: C4023523
- Finding: Disease or Syndrome
Abnormality of prenatal development or birth
- Polyhydramnios
Polyhydramnios
- MedGen UID: 6936
- Concept ID: C0020224
- Finding: Pathologic Function
Abnormality of prenatal development or birth
- Bilateral fetal pyelectasis
- Abnormality of the cardiovascular system
- Perimembranous ventricular septal defect
Perimembranous ventricular septal defect
- MedGen UID: 87490
- Concept ID: C0344925
- Finding: Congenital Abnormality
Abnormality of the cardiovascular system
- Perimembranous ventricular septal defect
- Abnormality of the digestive system
- Ascites
Ascites
- MedGen UID: 416
- Concept ID: C0003962
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Intrahepatic cholestasis
Intrahepatic cholestasis
- MedGen UID: 3042
- Concept ID: C0008372
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Liver failure
Liver failure
- MedGen UID: 88444
- Concept ID: C0085605
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Necrotizing enterocolitis
Necrotizing enterocolitis
- MedGen UID: 105440
- Concept ID: C0520459
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Ascites
- Abnormality of the eye
- Hypertelorism
Hypertelorism
- MedGen UID: 9373
- Concept ID: C0020534
- Finding: Finding
Abnormality of the eye
- Optic atrophy
Optic atrophy
- MedGen UID: 18180
- Concept ID: C0029124
- Finding: Disease or Syndrome
Abnormality of the eye
- Visual impairment
Visual impairment
- MedGen UID: 777085
- Concept ID: C3665347
- Finding: Finding
Abnormality of the eye
- Hypertelorism
- Abnormality of the genitourinary system
- Aminoaciduria
Aminoaciduria
- MedGen UID: 116067
- Concept ID: C0238621
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Elevated urine fumaric acid level
Elevated urine fumaric acid level
- MedGen UID: 1842100
- Concept ID: C5826557
- Finding: Finding
Abnormality of the genitourinary system
- Increased urine succinate level
Increased urine succinate level
- MedGen UID: 1771435
- Concept ID: C5421603
- Finding: Finding
Abnormality of the genitourinary system
- Aminoaciduria
- Abnormality of the integument
- Pallor
Pallor
- MedGen UID: 10547
- Concept ID: C0030232
- Finding: Finding
Abnormality of the integument
- Pallor
- Abnormality of the musculoskeletal system
- Frontal bossing
Frontal bossing
- MedGen UID: 67453
- Concept ID: C0221354
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Generalized hypotonia
Generalized hypotonia
- MedGen UID: 346841
- Concept ID: C1858120
- Finding: Finding
Abnormality of the musculoskeletal system
- Hypotonia
Hypotonia
- MedGen UID: 10133
- Concept ID: C0026827
- Finding: Finding
Abnormality of the musculoskeletal system
- Microcephaly
Microcephaly
- MedGen UID: 1644158
- Concept ID: C4551563
- Finding: Finding
Abnormality of the musculoskeletal system
- Reduced subcutaneous adipose tissue
Reduced subcutaneous adipose tissue
- MedGen UID: 387876
- Concept ID: C1857657
- Finding: Finding
Abnormality of the musculoskeletal system
- Relative macrocephaly
Relative macrocephaly
- MedGen UID: 338607
- Concept ID: C1849075
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Frontal bossing
- Abnormality of the nervous system
- Abnormality of speech or vocalization
Abnormality of speech or vocalization
- MedGen UID: 11531
- Concept ID: C0037822
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Cerebral atrophy
Cerebral atrophy
- MedGen UID: 116012
- Concept ID: C0235946
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Choroid plexus cyst
Choroid plexus cyst
- MedGen UID: 87376
- Concept ID: C0338597
- Finding: Finding
Abnormality of the nervous system
- Corpus callosum, agenesis of
Corpus callosum, agenesis of
- MedGen UID: 104498
- Concept ID: C0175754
- Finding: Congenital Abnormality
Abnormality of the nervous system
- Global developmental delay
Global developmental delay
- MedGen UID: 107838
- Concept ID: C0557874
- Finding: Finding
Abnormality of the nervous system
- Hypoplasia of the brainstem
Hypoplasia of the brainstem
- MedGen UID: 334226
- Concept ID: C1842688
- Finding: Finding
Abnormality of the nervous system
- Intellectual disability, profound
Intellectual disability, profound
- MedGen UID: 892508
- Concept ID: C3161330
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Lissencephaly
Lissencephaly
- MedGen UID: 78604
- Concept ID: C0266463
- Finding: Finding
Abnormality of the nervous system
- Open operculum
Open operculum
- MedGen UID: 436570
- Concept ID: C2675973
- Finding: Finding
Abnormality of the nervous system
- Polymicrogyria
Polymicrogyria
- MedGen UID: 78605
- Concept ID: C0266464
- Finding: Congenital Abnormality
Abnormality of the nervous system
- Status epilepticus
Status epilepticus
- MedGen UID: 11586
- Concept ID: C0038220
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Ventriculomegaly
Ventriculomegaly
- MedGen UID: 480553
- Concept ID: C3278923
- Finding: Finding
Abnormality of the nervous system
- Abnormality of speech or vocalization
- Growth abnormality
- Failure to thrive
Failure to thrive
- MedGen UID: 746019
- Concept ID: C2315100
- Finding: Disease or Syndrome
Growth abnormality
- Failure to thrive
- Neoplasm
- Cutaneous leiomyoma
Cutaneous leiomyoma
- MedGen UID: 87533
- Concept ID: C0346064
- Finding: Neoplastic Process
Neoplasm
- Cutaneous leiomyoma
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