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 -...

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...

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...

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...

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:...

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:...

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...

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...

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:...

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...

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

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...

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...

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...

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...

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

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:...

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:...

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:...

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

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

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,...

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

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:...

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

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

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...