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 -...

What is Alpers syndrome?Alpers syndrome is a mitochondrial disease that primarily affects the brain, vision, muscles, and liver. It goes by many names, including Alpers disease and Alpers-Huttenlocher syndrome (AHS). The disorder is very rare, affecting an estimated 1...

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...

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...

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...

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...

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...

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...

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....

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,...

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

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

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

What is CPEO?See similar topics: KSS, Mitochondrial Deletion Syndrome, CPEO-PlusChronic progressive external ophthalmoplegia (CPEO) is a mitochondrial DNA deletion syndrome characterized by weakness of the eye muscles. The condition typically emerges in adults between...

My Mito Story: Living with CPEO-PlusHear first-hand from other families diagnosed with Chronic progressive external ophthalmoplegia “plus”As part of UMDF's commitment to raising the voice of patients, Ashton Fairchild Ferguson, a 23-year-old Univerity of California -...

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...

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...

Just Launched: My Mito StoryAs part of UMDF's commitment to raising the voice of patients, Ashton Fairchild Ferguson, a 23-year-old Univerity of California - San Diego graduate, is sharing his story about living with Cystic Fibrosis and a mitochondrial deletion and...

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

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...

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...

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

LHON Live Monthly Online Meetings Each month, members of the LHON community gather online for LHON Live. During each session, patients interact on topics related to living with LHON.What is LHON?Leber hereditary optic neuropathy (LHON) is a rare inherited...

What is Leigh syndrome?Leigh syndrome (or Leigh’s disease) is a mitochondrial disorder, sometimes called subacute necrotizing encephalomyelopathy (SNE). Although rare, experts regard it as one of the most common clinical presentations of a mitochondrial disorder[1]....

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:...

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...

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...

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...

JUST LAUNCHED! Our MELAS Story"Our MELAS Story" is a video series designed to showcase the burden of living with MELAS, with hopes of helping the public understand the disease and ultimately helping industry and researchers understand priorities for future...

What is MEPAN?Mitochondrial Enoyl CoA Reductase Protein-Associated Neurodegeneration (MEPAN) is a rare mitochondrial disease that affects the brain and the nerves. It was first described in the medical literature in 2016 as the first disorder to be linked to defects...

What is MIDD?Maternally inherited diabetes and deafness (MIDD) is a subtype of mitochondrial disease that is associated with specific inherited mutations in mitochondrial DNA[1]. It accounts for an estimated 1% of diabetes cases[2] and is most common in individuals of...

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...

What are ARS Disorders (mtARS)?Mitochondrial ARS (Aminoacyl-tRNA Synthetase) Disorders (mtARS)  are a group of rare genetic conditions caused by mutations in the genes responsible for the production of aminoacyl-tRNA synthetases (ARS), which are enzymes essential for...

What is Mitochondrial DNA Deletion Disease? See related disease: KSS, CPEO A common form of mitochondrial disease results from absence (or deletion) of a segment of the mitochondrial DNA (mtDNA) circle. Like most mtDNA diseases, these disorders usually exist as...

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...

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

What is MNGIE?Mitochondrial neurogastointestinal encephalomyopathy (MNGIE) is a mitochondrial disease that primarily impacts the digestive and nervous systems. It is a rare disorder; between 550 and 600 affected individuals have been reported in published literature...

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:...

What is Pearson Syndrome? Pearson syndrome is a mitochondrial DNA deletion syndrome with the onset in the first six months of life that primarily affects the bone marrow and the pancreas[1]. For this reason, it is sometimes called Pearson marrow-pancreas syndrome....

What is PDCD?Pyruvate dehydrogenase complex (PDC) deficiency (also known as PDC deficiency, or more commonly PDCD) is a rare mitochondrial disorder that causes impaired carbohydrate metabolism. This impairment results in neurological problems and the buildup of a...

What is PolG? See related: CPEO, Mitochondrial Deletion Syndrome PolG disease is a mitochondrial disorder caused by mutations in the POLG gene[1]. It typically affects multiple organs, primarily the brain, nerves, muscles, and liver, and can affect vision due to...

What are primary mitochondrial myopathies?Primary mitochondrial myopathies (PMM) are a group of genetically defined mitochondrial diseases that principally affect the muscle[1]. These disorders can affect males, females, and individuals from any ethnic or racial...

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

What is SANDO?Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (SANDO) is a very rare mitochondrial disease that is part of the ataxia neuropathy spectrum (ANS) typically associated with mutations in the gene POLG1. It primarily affects the brain, muscles,...

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:...

SCHADShort Chain 3-hydroxyacyl CoA Dehydrogenase Deficiency Symptoms: Encephalopathy and possibly liver disease or cardiomyopathy Cause: Autosomal recessive Treatment: See Beta-oxidation Defects Links:...

TK2d Tuesday (TK2d Awareness Day) – September 10, 2024Thymidine kinase 2 deficiency (TK2d) is a rare mitochondrial disease that impacts people around the world. TK2d Tuesday is the second Tuesday of September and is meant to celebrate the TK2d community and its...

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...