Metabolic Disorders

Diagnosis

Metabolic disorders are difficult to diagnose because there are thousands of them and symptoms can mimic more common diseases or conditions. At Mayo Clinic, the key to accurate diagnoses for these patients has been the multidisciplinary coordination among medical specialties, a thorough assessment of signs and symptoms, and state-of-the-art testing.

To determine whether symptoms are caused by metabolic disorders, patient evaluations may include:

Neurological Assessments

Children with developmental delays or loss of previous developmental milestones, such as the loss of the ability to sit or stand, will be assessed by pediatric specialists through various tests, including an extensive physical exam and screenings for vision, hearing, heart and liver. The exam will include a detailed medical history provided by the parents on the child's development and medical history of the extended family. The medical team is led by specialists within Mayo's Pediatric Neurology Subspecialty Group.

Older children, teens and adults may receive neuropsychological testing in addition to physical assessments. Adults are assessed initially by an adult neurologist who may recommend a neurometabolic consultation.

Blood and Urine Testing

Blood and/or urine samples are used for genetic testing to identify biochemical abnormalities or mutations that cause metabolic disorders.

Genetic Counseling

Patients diagnosed with a metabolic disorder and their families will receive counseling from medical specialists in genetics to explain the diagnosis and the role of inherited genes. It is highly recommended that, for patients with metabolic disorders, other family members receive genetic counseling and testing.

Magnetic Resonance Imaging (MRI)

Magnetic resonance imaging (MRI) allows detailed imaging of the brain. MRI has greatly enhanced the ability to detect abnormalities in the brain that could indicate a metabolic disorder. MRI may be used to determine whether the patient has a metabolic disorder or to measure how the metabolic disorder has affected the brain. A typical MRI takes about 45 minutes.

MR Spectroscopy

MR spectroscopy is a new technique to detect chemicals in the brain which may indicate a metabolic disorder. Performed during an MRI, the technique adds about 20 minutes to the procedure.

Spinal Tap (Lumbar Puncture)

A needle is inserted into the spine at the lower back (lumbar) to collect cerebrospinal fluid (CSF). The fluid can be checked for evidence of a metabolic disorder.

Electromyogram (EMG)

This test measures the tiny electrical discharges produced in muscles, which may be affected by a metabolic disorder. A thin-needle electrode is inserted into the muscle and an instrument records the electrical activity of the muscle at rest and contracted.