Types of mitochondrial disease

Understanding Different Types of Mitochondrial Disease

There are many types of mitochondrial disease. Each disorder produces a spectrum of symptoms and abnormalities that can be confusing to both patients and physicians. Ongoing research and clinical trials offer the best hope for quicker diagnosis and more effective treatments.

Below are capsules of information categorized by Mitochondrial Disease type:

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Autosomal Dominant Optic Atrophy

ADOA - Autosomal Dominant Optic Atrophy ADOA - Autosomal Dominant Optic Atrophy – https://rarediseases.info.nih.gov/diseases/5243/autosomal-dominant-optic-atrophy-plus-syndrome DOA - Dominant Optic Atrophy - DOA -...

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Alpers Disease

Alpers Disease Long name: Progressive Infantile Poliodystrophy Symptoms: Seizures, dementia, spasticity, blindness, liver dysfunction, and cerebral degeneration Source: Dr. Rolf Luft; The development of mitochondrial medicine. [Review]; Proceedings of the National...

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Barth Syndrome

Barth Syndrome / LIC (Lethal Infantile Cardiomyopathy) Symptoms: Skeletal myopathy, cardiomyopathy, short stature, and neutropenia Cause: X-linked recessive Source: Dr. J. Christodoulou; Barth syndrome: clinical observations and genetic linkage studies; American...

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Beta-Oxidation Defects

Beta-oxidation Defects See LCAD, LCHAD, MAD, MCAD, SCAD, SCHAD, VLCAD Treatment: High carbohydrate-low fat diet, administration of medium-chain triglyceride oil, and diet supplementation with carnitine and/or riboflavin. Avoidance of fasting. NOTE: Information about...

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Carnitine-Acyl-Carnitine Deficiency

Carnitine-Acyl-Carnitine DeficiencySymptoms: Seizures, apnea, bradycardia, vomiting, lethargy, coma, enlarged liver, limb weakness, myoglobin in the urine, Reye-like symptoms triggered by fasting Cause: Autosomal recessive...

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Carnitine Deficiency

Carnitine DeficiencySymptoms: Seizures, apnea, bradycardia, vomiting, lethargy, coma, enlarged liver, limb weakness, myoglobin in the urine, Reye-like symptoms triggered by fasting Cause: Autosomal recessive...

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Complex I Deficiency

Complex I DeficiencyLong Name: NADH dehydrogenase (NADH-CoQ reductase) deficiency  Inside the mitochondrion is a group of proteins that carry electrons along four chain reactions (Complexes I-IV), resulting in energy production. This chain is known as the Electron...

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Complex II Deficiency

Complex II Deficiency Long Name: Succinate dehydrogenase deficiency Symptoms: Encephalomyopathy and various manifestations, including failure to thrive, developmental delay, hyoptonia, lethargy, respiratory failure, ataxia, myoclonus. Lactic acidosis common. May cause...

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Complex III Deficiency

Complex III Deficiency Long Name: Ubiquinone-cytochrome c oxidoreductase deficiency Symptoms: Four major forms: Fatal infantile encephalomyopathy, congenital lactic acidosis, hypotonia, dystrophic posturing, seizures, and coma. Ragged-red fibers common....

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Complex IV Deficiency / COX Deficiency

Complex IV Deficiency / COX DeficiencyLong Name: Cytochrome c oxidase deficiency is caused by a defect in Complex IV of the respiratory chain. Symptoms: Two major forms: Typically normal for the first 6 to 12 months of life and then show developmental regression,...

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Complex V Deficiency

Complex V Deficiency Long Name: ATP synthase deficiency Symptoms: Slow, progressive myopathy Links: https://rarediseases.info.nih.gov/diseases/1459/mitochondrial-complex-v-deficiency

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CPT I Deficiency

CPT I Deficiency Symptoms: Enlarged liver and recurrent Reye-like episodes triggered by fasting or illnesses Cause: Autosomal recessive Treatment: Medium-chain triglycerides...

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Creatine Deficiency Syndromes

Creatine Deficiency SyndromesAdditional names: Cerebral Creatine Deficiency Syndromes (CCDS) includes: Guanidinoaceteate Methyltransferase Deficiency (GAMT Deficiency), L-Arginine:Glycine Amidinotransferase Deficiency (AGAT Deficiency), and SLC6A8-Related Creatine...

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Co-Enzyme Q10 Deficiency

Co-Enzyme Q10 DeficiencySymptoms: Encephalomyopathy, mental retardation, exercise intolerance, ragged-red fibers, and recurrent myoglobin in the urine Cause: Probably autosomal recessive Treatment: Administration of Co-enzyme Q10 Links:...

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CPEO

CPEO Long Name: Chronic Progressive External Ophthalmoplegia Syndrome Symptoms: Similar to those of KSS plus: visual myopathy, retinitis pigmentosa, dysfunction of the central nervous system Cause: Single mitochondrial DNA deletions. Mitochondrial DNA point mutations:...

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CPT II Deficiency

CPT II Deficiency Symptoms – Myopathic: Exercise intolerance, fasting intolerance, muscle pain, muscle stiffness, and myoglobin in the urine Symptoms – Infantile: Reye-like syndrome, enlarged liver, hypoglycemia, enlarged heart, and cardiac arrhythmia Cause: Autosomal...

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KSS

KSS Long name: Kearns-Sayre Syndrome KSS is a slowly progressive multi-system mitochondrial disease that often begins with drooping of the eyelids (ptosis). Other eye muscles eventually become involved, resulting in paralysis of eye movement. Degeneration of the...

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Lactic Acidosis

Lactic Acidosis Cause: The accumulation of lactic acid due to its production exceeding its use. Chronic lactic acidosis is a common symptom of mitochondrial disease. Links: https://rarediseases.info.nih.gov/diseases/3163/lactic-acidosis-congenital-infantile

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LBSL – Leukodystrophy

LBSL – LeukodystrophyLeukoencephalopathy with brain stem and spinal cord involvement and lactate elevation (LBSL) is a result of a DARS2 gene mutation and is characterized by slowly progressive cerebellar ataxia and spasticity with dorsal column dysfunction (decreased...

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LCA Deficiency

LCAD Long Name: Long-Chain Acyl-CoA Dehydrongenase Deficiency Symptoms: Usually causes a fatal syndrome, in infants, typified by failure to thrive, enlarged liver, enlarged heart, metabolic encephalopathy, and hypotonia. Cause: Autosomal recessive Treatment: See...

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LCHA Deficiency

LCHAD Symptoms: Encephalopathy, liver dysfunction, cardiomyopathy, and myopathy. Also pigmentary retinopathy and peripheral neuropathy. Cause: Autosomal recessive Treatment: See Beta-oxidation Defects Links:...

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Leigh Disease or syndrome

Leigh Disease or SyndromeLong Name: Subacute Necrotizing Encephalomyelopathy Symptoms: Seizures, hypotonia, fatigue, nystagmus, poor reflexes, eating & swallowing difficulties, breathing problems, poor motor function, ataxia Leigh’s Disease is a progressive...

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Leber’s Hereditary Optic Neuropathy

LHON - Leber's Hereditary Optic Neuropathy Links LHON Website https://rarediseases.info.nih.gov/diseases/6870/leber-hereditary-optic-neuropathy LHON Live Monthly Online Meetings Each month, members of the LHON community gather online for LHON Live. During each...

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Luft Disease

Luft Disease Symptoms: Hypermetabolism, with fever, heat intolerance, profuse perspiration, polyphagia, polydipsia, ragged-red fibers, and resting tachycardia. Exercise intolerance with mild weakness. Cause: Unknown inheritance NIH Link:...

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MAD / Glutaric Aciduria Type II

MAD / Glutaric Aciduria Type II Long Name: Multiple Acyl-CoA Dehydrogenase Deficiency Cause: Defects of the flavoproteins responsible for transferring electrons (ETF or ETF-dehydrogenase) therefore affecting the function of all six ETF-funneling acyl-CoA...

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MCAD

MCAD Long Name: Medium-Chain Acyl-CoA Dehydrongenase Deficiency Symptoms: Afflicts infants or young children with episodes of encephalopathy, enlarged and fatty degeneration of the liver, and low carnitine in the blood. Cause: Autosomal recessive Treatment: See...

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MERRF

MERRFLong Name: Myoclonic Epilepsy and Ragged-Red Fiber Disease Symptoms: Myoclonus, epilepsy, progressive ataxia, muscle weakness and degeneration, deafness, and dementia MERRF is a progressive multi-system syndrome usually beginning in childhood, but onset may occur...

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MELAS

MELASLong Name: Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-like Episodes Symptoms: Short statue, seizures, stroke-like episodes with focused neurological deficits, recurrent headaches, cognitive regression, disease progression, ragged-red fibers MELAS...

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MEPAN

MEPAN Long Name: Mitochondrial Enoyl CoA Reductase Protein Associated Neurodegeneration MEPAN is caused by 2 mutations in the gene MECR (which encodes the protein mitochondrial trans-2-enoyl-coenzyme A-reductase), a newly described mitochondrial disease, which...

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MIRAS

MIRASLong Name: Mitochondrial Recessive Ataxia Syndrome. Symptoms: encephalopathy, balance problems, ataxia, epilepsy, cognitive impairment, psychiatric symptoms, eye movement disorders, involuntary movements, peripheral neuropathy. Cause: POLG mutation, Recessive...

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Mitochondrial DNA Depletion

Mitochondrial DNA DepletionSymptoms: Three forms:Following normal early development until one year old, weakness appears and worsens rapidly, causing respiratory failure and death typically within a few years. Neonatal weakness, hypotonia requiring assisted...

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Mitochondrial Encephalopathy

Mitochondrial Encephalopathy Includes: Encephalomyopathy, Encephalomyelopathy NIH Link: https://ghr.nlm.nih.gov/condition/mitochondrial-encephalomyopathy-lactic-acidosis-and-stroke-like-episodes

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MNGIE

MNGIE Long Name: Myoneurogastointestinal Disorder and Encephalopathy Symptoms: Progressive external ophthalmoplegia, limb weakness, peripheral neuropathy, digestive tract disorders, leukodystrophy, lactic acidosis, ragged red fibers New NIH link:...

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NARP

NARP Long Name: Neuropathy, Ataxia, and Retinitis Pigmentosa Cause: Mitochondrial DNA point mutations in genes associated with Complex V: T8993G, (also T8993C by some researchers). Leigh Syndrome may result if the percentage of mutation is high enough. Links:...

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Pearson Syndrome

Pearson Syndrome Symptoms: Bone marrow and pancreas dysfunction Cause: Single mitochondrial DNA deletions. Inheritance is usually sporadic. Those who survive infancy usually develop Kearns-Sayre Syndrome. Links:...

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POLG Mutations

POLG Mutations See: Mitochondrial News Volume 14 Issue 2 See: POLG Related Disorders – https://www.ncbi.nlm.nih.gov/pubmed/20301791 NIH Link: https://ghr.nlm.nih.gov/gene/POLG

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Pyruvate Carboxylase Deficiency

Pyruvate Carboxylase Deficiency Symptoms: Lactic acidosis, hypoglycemia, severe retardation, failure to thrive Common Symptoms: Seizures and spasticity Cause: Autosomal recessive Links: https://rarediseases.info.nih.gov/diseases/7512/pyruvate-carboxylase-deficiency

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PDC Deficiency

Pyruvate Dehydrogenase Deficiency Symptoms: Lactic acidosis, ataxia, pyruvic acidosis, spinal and cerebellar degeneration Less Common: Agenesis of the corpus callosum and lesions in the basal ganglia, cerebelum, and brain stem Also: Growth delay, hypotonia, seizures,...

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SANDO

SANDO Links: https://www.ncbi.nlm.nih.gov/books/NBK26471/

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SCAD

SCAD Long Name: Short-Chain Acyl-CoA Dehydrogenase Deficiency Symptoms: Failure to thrive, developmental delay, and hypoglycemia Cause: Autosomal recessive Treatment: See Beta-oxidation Defects Links:...

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SCHAD

SCHAD Symptoms: Encephalopathy and possibly liver disease or cardiomyopathy Cause: Autosomal recessive Treatment: See Beta-oxidation Defects Links: https://rarediseases.info.nih.gov/diseases/9870/3-alpha-hydroxyacyl-coa-dehydrogenase-deficiency

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TK2/myopathic form

TK2/myopathic formLinks: https://ghr.nlm.nih.gov/condition/tk2-related-mitochondrial-dna-depletion-syndrome-myopathic-form

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VLCAD

VLCADLong Name: Very Long-Chain Acyl-CoA Dehydrogenase Deficiency Symptoms: Various manifestations, ranging from fatal infantile encephalopathy to recurrent myoglobin in the urine, similar to the myopathic form of CPT II deficiency. Cause: Autosomal recessive...

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