Indication
This is a clinical test intended for HelpPurposes or indications for the test. Lab-provided.: Diagnosis
Isolated complex I deficiency is a rare inborn error of metabolism due to mutations in nuclear or mitochondrial genes encoding subunits or assembly factors of the human mitochondrial complex I (NADH: ubiquinone oxidoreductase) and is characterized by a wide range of manifestations including marked and often fatal lactic acidosis, cardiomyopathy, leukoencephalopathy, pure myopathy and hepatopathy with tubulopathy. Among the numerous clinical phenotypes observed are Leigh syndrome, Leber hereditary optic neuropathy and MELAS syndrome (see these terms). [from ORDO]
- Lactic acidosis
- Apnea
- Ptosis
- Cerebral edema
- Hypertrophic cardiomyopathy
- Cerebellar ataxia
- Coma
- Cyanosis
- Dyskinesia
- Sensorineural hearing impairment
- Hepatomegaly
- Hypoglycemia
- Lethargy
- Leukodystrophy
- Hypotonia
- Spasticity
- Nystagmus
- Babinski sign
- Respiratory insufficiency
- Splenomegaly
- Strabismus
- Vomiting
- Hepatic failure
- Muscle weakness
- Hyperreflexia
- Concentric hypertrophic cardiomyopathy
- Tongue fasciculations
- Hyper-beta-alaninemia
- Leukoencephalopathy
- Upslanted palpebral fissure
- Exercise intolerance
- Growth delay
- Blindness
- Bilateral tonic-clonic seizure
- Skeletal muscle atrophy
- Optic disc pallor
- Global developmental delay
- Hyporeflexia
- Cerebellar atrophy
- Hypospadias
- Respiratory failure
- Increased CSF lactate
- Reduced eye contact
- Poor head control
- Developmental regression
- Severe lactic acidosis
- Undetectable visual evoked potentials
- Acute necrotizing encephalopathy
- Progressive macrocephaly
- Failure to thrive
- Feeding difficulties in infancy
- Decreased activity of mitochondrial complex I
- Decreased activity of mitochondrial complex III
- Ragged-red muscle fibers
- Short chin
- Optic neuropathy
- Increased intramyocellular lipid droplets
- Focal T2 hypointense basal ganglia lesion
- 3-hydroxydicarboxylic aciduria
- Focal T2 hyperintense basal ganglia lesion
- Lacticaciduria
- Microcephaly
- Elevated lactate:pyruvate ratio
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Autosomal recessive inheritance
Providing a genetic evaluation for patients with a personal or family history suggestive of a hereditary form of hypertrophic cardiomyopathy.
Establishing a diagnosis of a hereditary form of hypertrophic cardiomyopathy.
- 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). - PubMed ID:
25173338
- Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. - PubMed ID:
25741868
- 2020 AHA/ACC Guideline for the Diagnosis and Treatment of Patients With Hypertrophic Cardiomyopathy: Executive Summary: A Report of the American College of Cardiology/American Heart Association Joint Committee on Clinical Practice Guidelines. - PubMed ID:
33215938
Not provided
Establish or confirm diagnosis
Citations- 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). - PubMed ID:
25173338
- 2020 AHA/ACC Guideline for the Diagnosis and Treatment of Patients With Hypertrophic Cardiomyopathy: Executive Summary: A Report of the American College of Cardiology/American Heart Association Joint Committee on Clinical Practice Guidelines. - PubMed ID:
33215938
Predictive risk information for patient and/or family members
Citations- 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). - PubMed ID:
25173338
- 2020 AHA/ACC Guideline for the Diagnosis and Treatment of Patients With Hypertrophic Cardiomyopathy: Executive Summary: A Report of the American College of Cardiology/American Heart Association Joint Committee on Clinical Practice Guidelines. - PubMed ID:
33215938
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