mitochondrial disorder | Autism PDD

 

My 22 month old son who was diagnosed with ASD at 17 months is being evaluated for mitochondrial disorder...anyone have experience with this?

http://www.autism-pdd.net/forum/forum_posts.asp?TID=19010&am p;PN=1  

Mitochondrial Disease

What are mitochondria?
A mitochondrion (singular of mitochondria) is part of every cell in the body that contains genetic material. Mitochondria are responsible for processing oxygen and converting substances from the foods we eat into energy for essential cell functions. Mitochondria produce energy in the form of adenosine triphosphate (ATP), which is then transported to the cytoplasm of a cell for use in numerous cell functions.

What are mitochondrial and metabolic diseases?
Mitochondrial medicine is a new and rapidly developing medical subspecialty. Many specialists are involved in researching mitochondrial diseases, including doctors specializing in metabolic diseases, cell biologists, molecular geneticists, neurologists, biochemists, pathologists, immunologists, and embryologists. Much of what we know about these diseases has been discovered since 1940. In 1959, the first patient was diagnosed with a mitochondrial disorder. In 1963, researchers discovered that mitochondria have their own DNA or "blueprint" (mtDNA), which is different than the nuclear DNA (nDNA) found in the cells' nucleus.

Mitochondrial and metabolic medical conditions are now referred to as mitochondrial cytopathies. Mitochondrial cytopathies actually include more than 40 different identified diseases that have different genetic features. The common factor among these diseases is that the mitochondria are unable to completely burn food and oxygen in order to generate energy.

The process of converting food and oxygen (fuel) into energy requires hundreds of chemical reactions, and each chemical reaction must run almost perfectly in order to have a continuous supply of energy. When one or more components of these chemical reactions does not run perfectly, there is an energy crisis, and the cells cannot function normally. As a result, the incompletely burned food might accumulate as poison inside the body.

This poison can stop other chemical reactions that are important for the cells to survive, making the energy crisis even worse. In addition, these poisons can act as free radicals (reactive substances that readily form harmful compounds with other molecules) that can damage the mitochondria over time, causing damage that cannot be reversed. Unlike nuclear DNA, mitochondrial DNA has very limited repair abilities and almost no protective capacity to shield the mitochondria from free radical damage.

What are the symptoms of mitochondrial diseases?
The types of mitochondrial diseases are categorized according to the organ systems affected and symptoms present. Mitochondrial diseases might affect the cells of the brain, nerves (including the nerves to the stomach and intestines), muscles, kidneys, heart, liver, eyes, ears, or pancreas. In some patients, only one organ is affected, while in other patients all the organs are involved. Depending on how severe the mitochondrial disorder is, the illness can range in severity from mild to fatal.

Depending on which cells of the body are affected, symptoms might include:

• Poor growth
• Loss of muscle coordination, muscle weakness
• Visual and/or hearing problems
• Developmental delays, learning disabilities
• Mental retardation
• Heart, liver, or kidney disease
• Gastrointestinal disorders, severe constipation
• Respiratory disorders
• Diabetes
• Increased risk of infection
• Neurological problems, seizures
• Thyroid dysfunction
• Dementia (mental disorder characterized by confusion, disorientation, and memory loss)

How common are mitochondrial diseases?
About one in 4,000 children in the United States will develop mitochondrial disease by the age of 10 years. One thousand to 4,000 children per year in the United Sates are born with a type of mitochondrial disease.

In adults, many diseases of aging have been found to have defects of mitochondrial function. These include, but are not limited to, type 2 diabetes, Parkinson's disease, atherosclerotic heart disease, stroke, Alzheimer's disease, and cancer. In addition, many medicines can injure the mitochondria.

What causes mitochondrial disease?
For many patients, mitochondrial disease is an inherited condition that runs in families (genetic). An uncertain percentage of patients acquire symptoms due to other factors, including mitochondrial toxins.

It is important to determine which type of mitochondrial disease inheritance is present, in order to predict the risk of recurrence for future children.

The types of mitochondrial disease inheritance include:

• nDNA (DNA contained in the nucleus of the cell) inheritance. Also called autosomal inheritance.
  -- If this gene trait is recessive (one gene from each parent), often no other family members appear to be affected. There is a 25 percent chance of the trait occurring in other siblings.
  -- If this gene trait is dominant (a gene from either parent), the disease often occurs in other family members. There is a 50 percent chance of the trait occurring in other siblings.
• mtDNA (DNA contained in the mitochondria) inheritance.
  -- There is a 100 percent chance of the trait occurring in other siblings, since all mitochondria are inherited from the mother, although symptoms might be either more or less severe.
• Combination of mtDNA and nDNA defects:
  -- Relationship between nDNA and mtDNA and their correlation in mitochondrial formation is unknown
• Random occurrences
  Diseases specifically from deletions of large parts of the mitochondrial DNA molecule are usually sporadic without affecting other family member
  -- Medicines or other toxic substances can trigger mitochondrial disease

How are mitochondrial diseases diagnosed?
Diagnosis of mitochondrial disease can be invasive, expensive, time-consuming, and labor-intensive. Therefore, evaluation is not taken lightly. Doctors experienced in diagnosing and treating these diseases will take either a step-wise approach to diagnosis or, in some centers, the evaluation takes place over a few days. The evaluation includes a combination of clinical observations and laboratory tests.

Under ideal circumstances, the evaluation will produce an answer. However, even after a complete evaluation, the doctor might not be able to confirm a specific diagnosis or put a name to the disorder. In many cases, however, the physician will be able to identify which patients do and don't have metabolic diseases.

Mitochondrial disease is diagnosed by:

• Evaluating the patient's family history
• Performing a complete physical examination
• Performing a neurological examination
• Performing a metabolic examination that includes blood, urine, and optional cerebral spinal fluid tests
• Performing other tests, depending on the patient's specific condition and needs. These tests might include:
  -- Magnetic resonance imaging (MRI) or scan (MRS) if neurological symptoms are present
  -- Retinal exam or electroretinogram if vision symptoms are present
  -- Electrocardiogram (EKG) or echocardiogram if heart disease symptoms are present
  -- Audiogram or BAEP if hearing symptoms are present
  -- Blood test to detect thyroid dysfunction if thyroid problems are present
  -- Blood test to perform genetic DNA testing

More invasive tests, such as a skin or muscle biopsy, might be performed as needed and recommended by your doctor.

How are mitochondrial diseases treated?
There are no cures for mitochondrial diseases, but treatment can help reduce symptoms, or delay or prevent the progression of the disease.

Treatment is individualized for each patient, as doctors specializing in metabolic diseases have found that every child and adult is "biochemically different." That means that no two people will respond to a particular treatment in a specific way, even if they have the same disease.

• Certain vitamin and enzyme therapies, along with occupational and physical therapy, might be helpful for some patients.

Vitamins and supplements prescribed might include:

- Coenzyme Q10
- B complex vitamins: thiamine (B₁), riboflavin (B₂), niacin (B₃), B₆, folate, B₁₂, biotin, pantothenic acid
- Vitamin E, lipoic acid, selinium, and other antioxidants
- L-carnitine (Carnitor®)
- Intercurrent illness supplement: vitamin C, biotin

• Diet therapy, as prescribed by your doctor along with a registered dietitian, might be recommended.
• Antioxidant treatments as protective substances are currently being investigated as another potential treatment method.

Important: Specific treatments should always be guided by a metabolic specialist. Patients should not take any of these supplements or try any of the treatments unless prescribed by a doctor. Taking inappropriate supplements or treatments might lead to delays or failure in establishing an accurate diagnosis.

What is the prognosis or outlook?
Once a patient is diagnosed with a specific mitochondrial disease, the patient's medical problems have already been identified or can be identified with proper testing so treatment can be initiated to relieve symptoms and delay the progression of the disease.

There is no way to predict the course of mitochondrial diseases. They might progress quickly or slowly, even over decades. The disease might also appear stable for years.

For parents considering having other children, genetic counseling is available. Although complex, prenatal testing is only available for a few types of mitochondrial disorders. Please discuss your concerns with your doctor.

hope this helps hun

Thanks...I have done some research on that, but the info pasted in was useful...there is little out there directly relating mitochondrial disorders and autism, especially related to treatment. Does anyone have/know a child diagnosed with ASD and mitochondrial disorder? My understanding from the MD who is evaluating him is that there are a handful of kids diagnosed with ASD who alo have mitochondrial disorder and of those kids some respond to the therapy and others do not. Those who respond vary in level of improvement from full "recovery" to mild changes. I would lov eto talk with someone who has been through this. I am trying not to get my hopes up, but it is hard. Though he clearly meets criteria for ASD diagnosis, he has many symptoms typical of mitochondrial disorder and I can only hope that treating that will improve all of his symptoms!

What kind of therapies are available for mitochondrial diseases.

Our pediatrician wants to test my oldest dd for mitochondrial defects by muscle biopsy.  According to him, there are no known treatments for these disorders except treatment with Q10 (I think) and whether this works is inconclusive. 

We report a family with a heterogeneous group of neurologic disorders associated with the mitochondrial DNA G8363A transfer ribonucleic acid (RNA)Lys mutation. The phenotype of one child in the family was consistent with autism. During his second year of life, he lost previously acquired language skills and developed marked hyperactivity with toe-walking, abnormal reciprocal social interaction, stereotyped mannerisms, restricted interests, self-injurious behavior, and seizures. Brain magnetic resonance imaging (MRI) and repeated serum lactate studies were normal. His older sister developed signs of Leigh syndrome with progressive ataxia, myoclonus, seizures, and cognitive regression. Her laboratory studies revealed increased MRI T2-weighted signal in the putamen and posterior medulla, elevated lactate in serum and cerebrospinal fluid, and absence of cytochrome c oxidase staining in muscle histochemistry. Molecular analysis in her revealed the G8363A mutation of the mitochondrial transfer RNA(Lys) gene in blood (82% mutant mitochondrial DNA) and muscle (86%). The proportions of mutant mitochondrial DNA from her brother with autism were lower (blood 60%, muscle 61%). It is likely that the origin of his autism phenotype is the pathogenic G8363A mitochondrial DNA mutation. This observation suggests that certain mitochondrial point mutations could be the basis for autism in some individuals.

 

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I belong to a yahoo group for kids with autism and metabolic and mitochondrial disorders.  My son has been tested with such varying results the geneticist hasn't a clue.  It you want info for the group, PM me.  I'm not sure if we can advertise other boards here????? Hi...I am SO sorry I missed this post when you first wrote it. I was searching
for something else & stumbled upon this. I will PM you my email...our dd
had a skin & muscle biopsy as well as CSF, urine, & blood tests for mito (&
everything else in the book ). They were all ruled out, but I've got some
info for you that may be helpful. Talk to you soon. Take care!

http://www.kathleensworld.com/mitochon.html

http://rarediseases.about.com/cs/mitochondrialdis/a/062103.h tm

There is a woman in my church who's son was diagnosed with this around
age 4. He is now 17. Unfortunately, in his case, the disease has progressed
and he is very affected at this point. He has a form of autism and also is on
pretty strong meds for seizures. I'm not trying to scare you or cause you
excessive worry, just outlining the one example I'm aware of. She has had
some difficulty determining the appropriate course of treatment for her son
since it is a pretty rare disorder.

In the event your son is diagnosed with this, and you want to talk with
someone, I'd be happy to try and put you in touch with her. Just PM me. [QUOTE=rhondat74]

 

My 22 month old son who was diagnosed with ASD at 17 months is being evaluated for mitochondrial disorder...anyone have experience with this?

[/QUOTE] I came across your post and my daughter was born with a very rare disease called Methylglutaconic Hydratase Deficiency. She is now seven and also has been recently diagnosed with ADHD and possible aspergers/autism, and sensory problems. I have not come across or met anyone who is familar with my daughters disease. It is inherited and overall she is doing fine, Her Neurologists diagnosed her when she was 2 and I had to go to Boston to see a specialists which did confirm the disease and she had to have blood test, and urine test, and also a skin biopsy to rule out other disease.

Good luck to you and your son, Take care!

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