Protocol Number: 04-HG-0127
Patients between 2 and 70 years of age with MMA may be eligible for this study. Participants are admitted to the NIH Clinical Center for 4-5 days each year for 5-10 years for the following tests and procedures: -Medical history, physical examination, eye examination -Consultations from dentists and specialists in the nervous system, digestive tract, endocrine, and kidney, as needed. -24-hour urine collection to examine for methylmalonic acid, other acids, sugar, and proteins for measuring kidney function. -Blood test to assess liver and thyroid function, blood counts and blood chemistries, methylmalonic acid levels, and for genetic tests and basic research studies. -Blood test to measure growth hormone production. For this test, a very small amount of blood is collected overnight (every 20-30 minutes from 8:00 PM to 8:00 AM) through an intravenous catheter (plastic tube placed in a vein). The total amount of blood drawn is approximately 1 tablespoon. Patients who have stopped growing or whose weight does not permit collection of 1 tablespoon of blood do not undergo this procedure. -Frequent blood pressure measurements, including overnight monitoring -Skin biopsy for cell culture (cells to grow in the laboratory for future testing). For this procedure, an area of skin is numbed with an anesthetic such as lidocaine. A 4-mm diameter circular area is then removed using a sharp punch and scissors. The wound is dressed and usually heals within a week. -Photographs of the face and body (wearing underwear) to help track growth and appearance. -Ultrasound of the kidneys -Hand x-ray to determine bone age -Dual energy x-ray absorptionometry (DEXA) scan to assess bone density. For the DEXA scan, the patient lies still on a table while the spine and hip are scanned using a small amount of radiation. Any patient who becomes seriously ill during the evaluation may be cared for at the NIH or transferred to another hospital if it is deemed advisable.
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National Institutes of Health Clinical Center
Bethesda, Maryland 20892. Last update: 01/17/2009
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