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Mitochondrial diseases

Name of disease:

Mitochondrial diseases

ICD-10 diagnosis code:

https://www.icd10data.com/ICD10CM/Codes/G00-G99/G70-G73/G71-/G71.3 https://www.icd10data.com/ICD10CM/Codes/E00-E89/E70-E88/E88-/E88.40


Pattern of inheritance:

Mitochondrial diseases are a group of disorders caused by dysfunctional mitochondria Mitochondrial diseases are often inherited, Mitochondrial DNA, is inherited from the mother only (with some exceptions) May be caused by mutations (acquired or inherited), may due to adverse effects of drugs, infections, or environmental causes.




mainly depends on clinical symptoms, Assess blood lactic acid auxiliary tests, such as urine composition, fundus examination, brain magnetic resonance, muscle function, electrocardiogram (ECG) and hearing testing, Confirm diagnosis by 1. blood mitochondrial enzymes level 2. genetic examination.

Age of onset:

newborn babies to adults Some people, despite their defective genes, will still have a healthy life of 20 to 30 years before they become ill

Common signs and symptoms:

Symptoms of mitochondrial disease vary widely, as abnormal mtDNA may occur in different parts of the body, some patients have liver damage, some brain lesions; In general, mitochondrial defects can be more severe if they occur in the muscles, brain, and nervous system because they are cells or tissues that consume more energy The clinical manifestations of patients can be classified according to different organs as below listed Symptoms: poor growth loss of muscle coordination muscle weakness exercise disorders visual problems hearing problems autism learning disabilities heart disease liver disease kidney disease gastrointestinal disorders respiratory disorders increased risk of infection neurological problems autonomic dysfunctio dementia Acquired conditions in which mitochondrial dysfunction has been involved are: diabetes Huntington's disease cancer Alzheimer's disease Parkinson's disease bipolar disorder, schizophrenia, aging and senescence, anxiety disorders cardiovascular disease sarcopenia chronic fatigue syndrome

Available treatments (medicinal and non-medicinal):

reatment options are currently limited; frequent use vitamins Pyruvat N-acetyl cysteine Treatment of mood disorders: N-acetyl-cysteine (NAC), acetyl-L-carnitine (ALCAR), S-adenosylmethionine (SAMe), coenzyme Q10 (CoQ10), alpha-lipoic acid (ALA), creatine monohydrate (CM), and melatonin

Disease management tips:

Exercises, including both endurance exercises and resistance / strength training.t Conserving cell energy.t Other treatments include 1. speech therapy, 2. physical therapy, 3. respiratory therapy, and 4. occupational therapy.t Dietary supplements, efficacy is uncertain.


Mitochondrial disease - Wikipedia

Other useful websites

More about the disease: 粒線體疾病(Mitochondrial disease) | 科學Online (ntu.edu.tw) Mitochondrial diseases - PMC - NCBI (nih.gov) 病人組織: