Program for Mitochondrial Medicine and Metabolism

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.

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.

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).

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.

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.

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.

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.

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

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.

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).

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.

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