Other mitochondrial metabolism disorders Save
ICD-10 code: E88.49
Disease category: E88.4: Mitochondrial metabolism disorders
Other Mitochondrial Metabolism Disorders
Mitochondrial metabolism disorders (MMDs) are a group of rare genetic diseases that affect the way the body produces energy. MMDs can affect any organ in the body, including the brain, heart, liver, and muscles. While there are many different types of MMDs, this article will focus on some of the lesser-known disorders.List of Other Mitochondrial Metabolism Disorders
- Carnitine Transporter Deficiency
- Citrullinemia Type II
- Cytochrome C Oxidase Deficiency
- Glycogen Storage Disease Type IV
- HMG CoA Lyase Deficiency
- Hypoparathyroidism with Sensorineural Deafness and Renal Dysplasia (HDR Syndrome)
1. Carnitine Transporter Deficiency
Carnitine transporter deficiency is a rare genetic disorder that affects the way the body uses fat for energy. This disorder prevents the body from properly transporting fatty acids into the mitochondria, where they are used to produce energy. The symptoms of this disorder can include muscle weakness, low blood sugar, and an enlarged liver.
2. Citrullinemia Type II
Citrullinemia type II is a rare genetic disorder that affects the way the body processes ammonia, a waste product of protein metabolism. This disorder can cause a buildup of ammonia in the blood, which can lead to brain damage. Symptoms of this disorder can include seizures, developmental delays, and liver problems.
3. Cytochrome C Oxidase Deficiency
Cytochrome C oxidase deficiency is a rare genetic disorder that affects the mitochondria's ability to produce energy. This disorder can cause a wide range of symptoms, including muscle weakness, developmental delays, and seizures. In some cases, this disorder can be fatal.
4. Glycogen Storage Disease Type IV
Glycogen storage disease type IV is a rare genetic disorder that affects the way the body stores and uses glycogen, a form of energy stored in the liver and muscles. This disorder can cause a buildup of glycogen in the body, which can lead to liver and muscle damage. Symptoms of this disorder can include muscle weakness, enlarged liver, and heart problems.
5. HMG CoA Lyase Deficiency
HMG CoA lyase deficiency is a rare genetic disorder that affects the way the body produces energy from fats and proteins. This disorder can cause a wide range of symptoms, including low blood sugar, developmental delays
Treatment of Other mitochondrial metabolism disorders:
Other mitochondrial metabolism disorders: Understanding treatment options
Mitochondrial metabolism disorders are rare genetic conditions that affect the body's ability to produce energy. They can lead to a range of symptoms, including muscle weakness, seizures, and developmental delays. While there is currently no cure for these disorders, there are treatment options available to help...To see full information about treatment please Sign up or Log in