Inherited Metabolic Disease

The Stanford Medical Genetics- biochemical disease team cares for children and adults with inherited metabolic diseases. Inherited metabolic diseases are rare, genetic disorders that result from a missing or defective enzyme in the body. Enzymes in the body are responsible for the breakdown of food and other chemicals as a part of the body's metabolic process. The type of inherited metabolic disorder an individual may have depends on which enzyme is missing or defective. Symptoms of inherited metabolic disorders vary widely and can range from very mild to life-threatening. See below for the types of metabolic conditions we see. 

Clinical Service

What to expect from you or your child's visit:

A member of our team will meet with you to discuss the reason for referral and past medical history.  Previous laboratory and imaging studies will be reviewed and a comprehensive physical examination will be performed, as necessary.

The geneticist or genetic counselor will then discuss their recommendations, including possible genetic testing or referrals to other specialists.  If genetic testing is ordered, these results will be reported to you once they are available.

Our services include: 

  •     Diagnostic evaluation
  •     Nutritional Assesment 
  •     Genetic Counseling
  •     Long term management 
  •     Social work

Referals are accepted for children with suspected or diagnosed inherited metabolic team OR adults with confirmed inherited metabolic disease. 

Please note that insurance coverage of genetic services including genetic testing and genetic counseling varies.  If you have a PPO plan, we encourage you to check with your plan to determine coverage benefits. If you have an HMO plan, recommendations for genetic testing will be provided to the referring physician’s office after the clinic visit.

Conditions we treat

Meet Our Team

Greg Enns, MD, is a physician, board certified in clinical biochemical genetics and clinical genetics. He completed his residency at Children’s Hospital Los Angeles and his fellowship at UCSF Medical Center. He is a member of Stanford’s Bio-X institute, which facilitates interdisciplinary research connected to biology and medicine.

Research interests include novel means of diagnosing and treating mitochondrial disorders and lysosomal disorders. Current pursuits include the analysis of glutathione and redox status in individuals who have mitochondrial dysfunction and the development of a precision medicine approach to diagnosing and managing inborn errors of metabolism. Dr. Enns is involved in many clinical trials in these areas and more.

Clinics: Inherited Metabolic Disease clinic, General Genetics clinic

Chung Lee, MD

Monica Nevitt, RD

Temitope Pedro, MPH, RD

Lisa Williams, RD

Jodi Wright, RD, CNSC

Holly Bernal, RN, MS, FNP-C



Robin Newman, MSW


Treatment & Trials

Treatment of Inherited Metabolic Disease

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

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

Medical Genetics

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

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 (

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 (