Inherited Metabolic Disorders Program

Experts in Diagnosing and Treating Rare Disorders

Inherited metabolic disorders are rare among the general population and may often be misdiagnosed, as symptoms often mirror those associated with other conditions. Our program provides diagnostic testing, evaluation and management for patients with inborn errors of metabolism. In addition to diagnostic testing, we provide treatment for patients identified by newborn screening.

Among the more than 75 conditions we care for, we have particular expertise in:

• Galactosemia
• Leukodystrophies
• Lysosomal storage disorders
• Mitochondrial disorders
• PKU (phenylketonuria)
• Organic acidemias
• Urea cycle disorders

Newborn Screening Follow-Up Program

Newborn screening (NBS) is widely recognized as an essential, life-saving public health program. The screening consists of a simple heel stick for a few drops of blood when a baby is between 24 and 48 hours old. The blood is sent to a state-approved laboratory for testing. All states and the District of Columbia have established NBS programs to identify treatable disorders before they cause serious health problems. Most of the conditions are not easily recognized at birth and are not associated with a family history of disease. If left untreated, some disorders can cause intellectual disability and/or lead to death. Early treatment improves outcomes dramatically. 

The Children's National Rare Disease Institute’s NBS Follow-Up Program specializes in the evaluation and diagnosis of children who have had an abnormal metabolic newborn screen. While some abnormal screens do not reflect true disease (known as “false positives”), immediate clinical assessment is recommended and available in our program, typically within one business day. At an NBS Follow-Up Program clinic visit, a nurse practitioner or geneticist will take a complete medical and family history, perform a physical exam, order necessary diagnostic laboratory testing and start any necessary or preventative treatment.