Adult Metabolism Program

Adults affected with inborn errors of metabolism receive ongoing services across the lifespan through our Adult Metabolism Program. Infants, children, and adolescents with inborn errors of metabolism receive care in our multidisciplinary Pediatric Metabolism Program. Our multidisciplinary team of physicians, nurse practitioners, genetic counselors and metabolic dietitians work together to diagnose, evaluate and manage inborn errors of metabolism, particularly following newborn metabolic screening. Additional activities include clinical, academic and laboratory research, vigorous public health and scientific collaborations, and education of families, health care providers, genetic counseling students, dietician students, nurse practitioner and medical students, residents and fellows regarding the evaluation and management of metabolic diseases.

Providers:

Providers:

• Susan A. Berry, MD

Genetic Counselors:

• Chelsea Anttila, MS, CGC

Metabolic Dietitians:

• Dorothy Markowitz, RD, LD
• Jenny Bock, RD, LD

Neuropsychologisty:

• Christopher Boys, PhD, LP

Conditions we provide specialty care for (but not limited to):

• Inborn errors of metabolism
• Amino acid disorders
• Fatty acid oxidation disorders
• Organic acidemias
• Galactosemia
• Biotinidase deficiency
• Glycogen storage disorders
• Lysosomal storage disorders (see Advanced Therapies Clinic)
• Mitochondrial disorders
• Phenylketonuria (PKU) (see Adult Phenylketonuria Clinic or Pediatric Phenylketonuria Clinic)
• Urea cycle defects

Physicians: