Inherited Metabolic Diseases—Overview
- A build up of harmful substances that the enzymes would otherwise breakdown
- An inability to fully breakdown food for use in the cells
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- Skin rash
- Recurrent infections or hernias
- Developmental delays
- Problems with hearing or sight
- Problems including pain with bones
- Problems with heart
- Screening tests for vision and hearing
- Eye exams
- Neuropsychological testing—measures mental function
- MRI scan
- Spinal tap —fluid is taken from the spine and examined
- Tissue biopsy —a sample of tissues is taken and examined
- Electromyogram (EMG)—measures electrical impulses in the muscles
- Other special tests of the heart, liver, and kidneys
Ongoing Symptom Management
- Physical therapy
- Substrate Synthesis Inhibition Therapy (SSI)—medication that decreases the item that build up in the cells due to missing enzymes.
- Enzyme Replacement Therapy (ERT)—Working enzymes are delivered through an IV to do the job of the defective enzymes.
- Stem Cell Transplant— stem cells are transplanted through IV to encourage the body to make the missing enzyme.
Children Living with Inherited Metabolic Disorders http://www.climb.org.uk/
Society for Inherited Metabolic Disorders http://www.simd.org/
The Canadian Society for Mucopolysaccharide & Related Diseases http://www.mpssociety.ca/
Health Canada http://www.hc-sc.gc.ca/
Information for Professionals. National Information Center for Metabolic Diseases (CLIMB) website. Available at: http://www.climb.org.uk/pro.htm . Accessed June 24, 2013.
Lipid Storage Disease. National Institute of Neurological Disorders an Stroke website. Available at: http://www.ninds.nih.gov/disorders/lipid%5Fstorage%5Fdiseases/detail%5Flipid%5Fstorage%5Fdiseases.htm . Accessed June 24, 2013.
- Reviewer: Michael Woods, MD
- Review Date: 06/2013
- Update Date: 06/03/2013