People with inherited metabolic disorders may have a variety of symptoms without a diagnosis, or they may have been misdiagnosed. Parents often come to Mayo Clinic because their child has several symptoms such as developmental delays, birth defects, an abnormally small head or brain, seizures, abnormal movements, growth problems, or others. In some cases, children may have been misdiagnosed with cerebral palsy, autism or other conditions whose symptoms can be similar to inherited metabolic disorders.
Tests and assessments may include a biopsy of the skin or other tissue, magnetic resonance imaging (MRI), magnetic resonance spectroscopy (MRS), spinal tap (lumbar puncture), and an electromyography (EMG), which includes a nerve conduction study. In tests that involve radiation, specialists carefully monitor doses to avoid the risk of radiation overexposure.
Other tests and evaluations may include:
- Genetic evaluation. The Department of Medical Genetics at Mayo Clinic in Minnesota provides evaluations for children and adults. Specialists perform a thorough physical exam and discuss family history. They may also order genetic testing and provide genetic counseling.
- Genetic testing. Mayo offers comprehensive biochemical and molecular testing for inherited metabolic disorders, from supplemental newborn screening to follow-up testing and diagnosis.
- Genetic counseling. People diagnosed with an inherited metabolic disorder and their families will receive counseling from medical specialists in genetics to explain the diagnosis and the role of inherited genes. If one person in the family has an inherited metabolic disorder, specialists often recommend genetic counseling and testing for other family members as well.
- Neurological assessment. For children with neurological problems, specialists in Mayo's Child and Adolescent Neurology Subspecialty Group in Minnesota will perform various tests, including an extensive physical exam and certain screenings, such as vision, hearing, heart and liver. The exam will include a detailed medical history of the child and the extended family. Older children, teens and adults may also receive neuropsychological testing. Adult neurologists will provide initial assessments for adults and may recommend a neurometabolic consultation.