There are different treatments tailored to the specific inherited metabolic disease. A common treatment is diet modiciation. Other possible treatments include enzyme replacement therapy (ERT), hematopoetic stem cell transplantation (HSCT), and organ transplantation. 

Diet Therapy

• Enzymes are important for the processing of protein, fat, and carbohydrates from our diet.
• Depending which enzyme is not working currently, certain compounds can build up in the body which are toxic and certain compounds may be deficient.
• We can treat patients by restricting their diets of certain food groups and giving them what they may be missing.
• For instance, if you child has PKU (phenylketonuria), they will be prescribed a diet low in specific amino acids, the building blocks of proteins.
• There are special medical foods available as well as cook books and other ideas for these special diets.

Enzyme Replacement Therapy

Enzyme replacement therapy (ERT) is a treatment that replaces missing enzymes in individuals with lysosomal enzyme deficiencies. The treatment most often involves weekly or biweekly intravenous (IV) infusions depending on the enzyme. Some are administered directly into the central nervous system (intrathecal). ERT is not curative but can ameliorate symptoms or slow the progression of the disease.

Enzyme replacement therapy is currently available for several lysosomal diseases:

•         Gaucher disease
•         Fabry disease
•         Mucopolysaccharidoses type I (Hurler syndrome)
•         Mucopolysaccharidoses type II (Hunter syndrome)
•         Mucopolysaccharidoses type IVA (Morquio A syndrome)
•         Mucopolysaccharidoses type VI
•         Mucopolysaccharidoses type VII (Sly syndrome)
•         Ceroid Neuronal lipofuscinosis type 2 (CLN2)

At Lucile Packard Children Hospital highly trained physicians and nurse practitioners help ensure our patients are initiated on the appropriate therapy promptly. Patients are initially managed at our pediatric infusion center. For patients that are medically stable, home infusions are an alternative also coordinated by our service.

For questions about our ERT please email Dr. Natalia Gomez-Ospina at gomezosp@stanford.edu

Hematopoietic Stem Cells Transplantation (HSCT)

Hematopoietic stem cell transplantation (HSCT) can be performed for a small number of inborn errors of metabolism to prevent or slow-down the development of symptoms. Outcomes tend to depend on the clinical stage of the disease and in some instances, it can be recommended before symptoms start.

 Depending of the stage of the disease, HSCT should be first-line therapy for

•         Severe Mucopolysaccharidosis type 1 , also known as Hurler syndrome
•         X-linked Adrenoleukodystrophy, cerebral form
•         Metachromatic leukodystrophy
•         Krabbe disease

At Stanford Children’s Health, we have a multidisciplinary team to care for metabolic patients undergoing HSCT. These include a medical geneticist and a transplant specialist. Depending on the specific disease and symptoms being treated, additional specialists such as neurology, endocrinology, orthopedic surgery, gastroenterology, and ophthalmology can be involved.

Medical Genetics

• Greg Enns, MD
• Chung Lee, MD
• Natalia Gomez-Opsina, MD, PhD
• Dena Matalon, MD

Pediatric Stem Cell Transplantation

• Ami Shah, MD

Solid Organ Transplantation for Genetic Diseases

Stanford Children’s Health prides itself of having one of the best pediatric solid organ transplants in the country. We are one of the leading groups in using solid organ transplantation for the following metabolic disease. 

•         Urea cycle disorders (OTC, Arginase deficiency)
•         Methylmalonic acidemia (MMA)
•         Proprionic academia (PA)
•         Maple syrup urine disease (MSUD)
•  

In addition, our team has expertise in transplantation or non-metabolic disorders that affect the liver including:

•         Wilson disease
•         Tyrosinemia type 1
•         Progressive familial intrahepatic cholestasis
•         Mitochondrial hepatopathy  
•         Glycogen storage disease
•         Alagille syndrome

Program for Inherited Metabolic Disorders

At Stanford, we believe there are exciting opportunities to develop and test therapeutics that we could profoundly impact the future management of metabolic disorders.  Towards this end, Stanford established the Center for Definitive and Curative Medicine (CDCM) which provides the organizational and physical infrastructure to support investigator-initiated clinical translational studies on stem cell and gene therapy from initial discovery through completion of clinical proof-of-concept studies (https://med.stanford.edu/ptrm/programs/cdcm.html).

The Program for Inherited Metabolic Disorders (PIMD) was established to promote the development of stem cell and gene therapies for metabolic diseases. The goal is to develop one-time therapies that are more effective and safer than currently available ones.

We have two projects that in preclinical stages:

•        1.  Autologous transplantation of genome edited blood stem cells for Mucopolysaccharidosis type 1
•        2.  Autologous transplantation of genome edited blood stem cells for Gaucher disease type 1

For question about the PIMD, or discussion about potential target disease please email Dr. Natalia Gomez-Ospina MD, PhD (gomezosp@stanford.edu)

• X-linked Adrenoleukodystrophy: Van Haren lab, Stanford University: http://med.stanford.edu/van-haren-lab/research.html 
• Pompe disease: John Day, MD lab: http://med.stanford.edu/day-lab/clinical_trials.html
• Clinical trials at clinicaltrials.gov
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