Metabolic disorders are genetic conditions that affect the metabolism or the body’s ability to turn food into energy. There are hundreds of different metabolic disorders. Also known as inborn errors of metabolism (IEM), they are individually rare, but collectively numerous. The chance of being diagnosed, collectively, is estimated to be as high as 1 in 800 to 1 in 1400 live births.
“Upon arriving to area, I saw that there was a need for a clinic that specialized in the treatment of metabolic diseases,” said Dr. Ricardo Villalba, a pediatric geneticist at Baystate Children’s Hospital.
With expertise in biochemical genetics, Dr. Villalba wasted no time in establishing a service for patients across western Massachusetts. In the fall of 2015, he launched a new clinic for patients with suspected or known inborn errors of their metabolism. Headquartered at the Baystate Children’s Specialty Center, the metabolic diseases clinic offers a patient-centered approach to critical care.
Types of Genetic Metabolic Diseases
“The clinic treats patients with genetic metabolic disorders that they inherit at birth,” said Dr. Villalba. “These systemic errors in the metabolism can be divided as intermediary metabolisms disorders, energy metabolism disorders, and complex molecules disorders. Complex molecules disorders are rarer and can be life threatening,” he added.
Conditions include Phenylketonuria, or PKU, a disorder where an amino acid, called phenylalanine, cannot be broken down. If not treated, phenylalanine can build up in harmful levels, causing long term problems like intellectual disabilities and other serious health problems. Other metabolic conditions include:
- organic acidurias;
- fatty acids oxidation disorders;
- urea cycle disorders;
- cofactor disorders;
- lysosomal storage diseases; and
- mitochondrial diseases.
Currently the clinic sees two types of pediatric patients.
“All babies born in the state of Massachusetts undergo a newborn screening to look for over 30 metabolic diseases. If a child’s test comes back positive, they’re then referred to the clinic to confirm a diagnosis and begin treatment if need be,” said Dr. Villalba. “We also receive referrals from other area physicians who suspect their patient may have one of these conditions.”
The clinic is not just for children. Since the clinic is the only one of its kind in the area, the doctors also see adult patients who suffer from metabolic issues.
Many children and adults who suffer from these disorders require a special diet, need to follow a certain regime, and should be supplemented with certain medications. The metabolic diseases clinic consists of a multidisciplinary team that helps coordinate the care that these patients need. The care team includes metabolic physicians, registered dietitians with expertise in metabolic nutrition and care coordination, and a genetic counselor.
100 percent of these disorders are inherited, but there are different findings in the clinical history of a patient that could pose as red flags to doctors in identifying these conditions.
“We look for developmental delays, developmental regressions or kids that have developmental problems or loss of balance and seizures,” said Villalba. These symptoms can be a secondary health problem due to a metabolic disorder,” he added.
Once a patient is referred to the clinic, the first step is to confirm a diagnosis. Then treatment begins immediately.
“Many of these conditions can be life threatening if not caught and treated in time,” said Dr. Villalba. “Once a diagnosis is confirmed, treatment has to be started immediately, even before there are any symptoms, to give the patient the best future outcome.”
The clinic meets every Tuesday. Since its start, the clinic has helped detect and treat many children and adults in the community.
“So far we are having success with the clinic and patient outcomes,” said Dr. Villalba. “We continue to work closely with other clinics to identify these patients within the community, and start treatment immediately to ensure the best outcome.”
For more information, please call 413-794-KIDS to schedule an appointment in our metabolic clinic.