Program for Mitochondrial Medicine and Metabolism

The Program for Mitochondrial Medicine and Metabolism provides care for children with mitochondrial diseases and metabolic disorders that affect mitochondria. We diagnose and treat a wide range of these diseases. These vary from metabolic-induced developmental delay to complex problems that involve many body systems.

Mitochondria in our cells help make almost all of the energy we need to live and grow. In mitochondrial diseases, these energy-making areas do not work properly. This damages cells and causes different symptoms, depending on which cells are damaged.

Care for children with mitochondrial problems requires teamwork by many kinds of healthcare providers. Our team includes experts in neurology (with specialty in epilepsy), anesthesiabiochemical genetics (with specialty in inborn errors of metabolism), neuropsychologyneuroimagingvision and eye movementscardiology and gastrointestinal disorders.

Our program combines expert clinical care based at Seattle Children's with cutting-edge research taking place at Seattle Children's Research Institute. Our clinicians and researchers work together closely. This is one reason we can offer state-of-the-art care and diagnosis and the latest treatments. These include new therapies being tested in clinical trials. We also work closely with the Mitochondrial Research Guild, a special-interest guild of Seattle Children's founded by local families.

The Mitochondrial Care Network has recognized Seattle Children’s as a certified Mitochondrial Medicine Center.

Conditions We Treat and Diagnose

We see infants and children with many mitochondrial problems, including:

  • Known common mitochondrial syndromes

    These include Leber hereditary optic neuropathy (LHON), mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes (MELAS), Kearns-Sayre syndrome (KSS), Pearson syndrome, progressive external ophthalmoplegia (PEO), neuropathy ataxia retinitis pigmentosia (NARP), myoclonus epilepsy with ragged red fibers (MERRF) and Leigh syndrome.

  • Electron transport complex (ETC) enzyme deficiencies

    These conditions may first appear anytime during a child's life from infancy to adulthood. Most get worse over time, or are degenerative. They usually affect many body systems and may cause a wide range of symptoms. These symptoms may include seizures, developmental delay and problems with the heart, gastrointestinal tract, vision, muscles, kidneys and height.

  • Mitochondrial DNA depletion syndromes

    These genetic diseases may first appear anytime during a child's life. They include myocerebrohepatopathy spectrum (MCHS) disorders, Alpers-Huttenlocher syndrome, myoclonus epilepsy myopathy and sensory ataxia (MEMSA) and autosomal recessive and dominant progressive external ophthalmoplegia (PEO).

  • Disorders of mitochondrial function

    These are disorders that alter the physiological process of handling iron; protein synthesis; protein import into the mitochondria; alteration of precursor pools of nucleotides; interaction with endoplasmic reticulum and calcium handling; and mitochondrial dynamics. These rare disorders are now being discovered to cause a wide range of diseases such as leukoencephalopathy, movement disorders, sensory neuropathy, cognitive delay, motor delays (both gross and fine) and secondary diseases such as diabetes.

  • Metabolic diseases that affect mitochondrial function

    A wide range of metabolic diseases may affect the mitochondria. These include problems with how the body makes, breaks down or uses proteins, fats or carbohydrates, and problems with the building blocks of DNA and RNA.

Services We Provide

  • Comprehensive mitochondrial and metabolic evaluation

    We will do an evaluation to help find out about your child's condition. This includes biochemical analysis of urine, blood and tissue. We do a series of tests that help us decide whether we also need to look at your child's tissue to make a diagnosis. If we do, we will take very small samples (biopsies) of your child's muscle, liver or skin tissue. Then we check these for problems with the structure or function of the mitochondria. We also offer genetic testing when it may be helpful.

  • Genetic analysis

    There are some genetic reasons for diseases that affect mitochondria. We use standard genetic analysis to find out if one of these is the reason for your child's condition. Our team is involved in research to test for genetic causes of mitochondrial problems using next-generation technology called massively parallel sequencing technology.

  • Neuropsychological testing

    We offer complete analysis of your child's language, learning, memory and motor functions. Neuropsychologists on your child's healthcare team will do one-on-one testing. We are one of the few centers in the world that offer this type of testing. When needed, we combine testing with functional magnetic resonance imaging (fMRI) to fully assess your child's condition

  • Advanced neuroimaging

    Neuroimaging procedures provide high-quality pictures of the structure and function of the brain. We use the most advanced techniques to see how your child's brain may be affected by mitochondrial disease. MRI shows the brain's structure. Our neuropsychologists use fMRI to assess your child's learning and memory. Proton magnetic resonance spectroscopy (MRS) detects changes in brain chemistry.

  • Anesthesia for procedures

    Our anesthesiologists are trained to meet the special needs of children with mitochondrial diseases. We use anesthesia during any surgery your child may need, such as to take a tissue sample for biopsy or to place a feeding tube (gastrostomy tube).

  • Dietary management

    Some mitochondrial diseases require a special diet. For example, children with pyruvate dehydrogenase deficiency need to eat a diet that is high in fat and low in protein and carbohydrates (ketogenic diet). We prescribe special diets for children with mitochondrial diseases or metabolic diseases that affect mitochondria. Our Biochemical Genetics program also helps to manage the dietary needs of these children.

  • Neuromuscular testing

    Our neuromuscular experts are highly trained to analyze muscle dysfunction and peripheral nerve functioning.

Telemedicine at Seattle Children’s

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Paying for Care

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