Pediatric metabolic diseases

How are pediatric metabolic diseases diagnosed?

Diagnostic evaluation of patients with suspected detabolic disease

The Metabolic Clinic staff evaluates patients with a history concerning for a metabolic disease. The evaluation process includes review of clinical and laboratory findings, plus family history information. Recommendations for additional testing and evaluation are provided.

Diagnosis and ongoing care of patient with lysosomal storage disorders

The Metabolic Clinic provides diagnosis, management, treatment, genetic counseling, and education for lysosomal storage disorders including:

• Gaucher disease - a rare, genetic metabolic disorder causing fatty cells to build up in organs and tissues in the body
• Fabry disease - a rate genetic neurological disorder that causes a build up of fatty materials (lipids) in the body
• Mucopolysaccharidoses (MPS disorders) - this is a grup of inherited metabolic disorders causing the body to accumulate chains of sugar molecules called   glycosaminoglycans (GAGs)
  • Hurler - a deficiency of a lysosomal enzyme, IUDA, which aids in the breakdown of dermatan sulfate and heparin sulfate (GAG)
  • Sanfilippo - a rare genetic disorder that affects the brain and nervous system
  • Morquio - a rare genetic condition that affects a child's bones and spine, organs, and physical abilities

We coordinate clinically available enzyme replacement therapy for these conditions. Children’s Health Special Procedures Clinic nurses provide weekly or biweekly enzyme replacement with oversight of the metabolic physicians.

The Metabolic Clinic consists of a team of specialists dedicated to working with families to provide on-going management recommendations and support for treatment of inborn errors of metabolism. This team includes metabolic physicians, genetic counselors, a metabolic dietitian and a metabolic social worker.

How are pediatric metabolic diseases treated?

Dietary management - An individualized plan of dietary treatment is developed for each patient who has a confirmed diagnosis that is managed by diet. This includes disorders of amino acids, organic acids, and carbohydrate metabolism.

The dietitian evaluates the patient's current nutritional status, obtaining nutrition history from patients and parents, and develops dietary treatment plans by correlating blood levels with intake of target nutrients.

We also provide diet teaching and resources to assist in managing your child’s special diet. 

Genetic counseling - The Metabolic Clinic provides genetic counseling and education related to inborn errors of metabolism. This may include an explanation of the patient's diagnosis, mode of inheritance, chance of recurrence in future children or grandchildren, and information regarding prenatal diagnosis if applicable.