It remains a curiosity why medicine and dentistry have branched out into 2 separate disciplines, with hardly any communication between them. Only one connection between medicine and dentistry stands out, and that is in the field of maxillofacial surgery, a discipline that requires one to have a degree in both medicine and dentistry—no small feat indeed.

It is perhaps a good thing that health care is so specialized today. It certainly has put the days of amateur amputations and butchers filling in as surgeons behind us. However, it would do well for physicians and dentists to communicate and cooperate on tasks that require both their expertise, such as the impact of inborn errors of metabolism on pediatric dentistry.

A Vast, Complex Diversity of Oral Features

In the Journal of Inherited Metabolic Diseases, Hirst and colleagues wrote about inborn errors of metabolism, such as long chain fatty acid oxidation disorder, and their impact on pediatric dentistry. For years, we have known that inborn errors of metabolism have an impact on the orofacial features of affected patients.

“Clinical management presents an unparalleled challenge for pediatric dentists owing to the multiplex of interrelated dental manifestations and metabolic management necessitating modifications to dental care,” Hirst et al wrote.

Complicating the efforts to get pediatric patients with inborn errors of metabolism the care they deserve is the challenge of diagnosing the disease in the first place. Inborn errors of metabolism often have a rather insidious and subtle presentation, which is therefore easily missed. Among the nonspecific symptoms that have been reported are lethargy, vomiting, decreased feeding, and hypoglycemia.

Any delay in the diagnosis of a major disease has the potential to cause anxiety among patients and their caregivers once the full extent of the disease is revealed. Hirst and colleagues wrote, “Comparably to many childhood chronic illnesses, the multifaceted physical, psychological, and social sequelae of inborn errors of metabolism frequently result in a poorer health-related quality of life.”

Once a diagnosis is made, physicians should make every effort to manage the patient in a multidisciplinary setting (and yes, that involves dentists as well). Why? Because “a vast diversity of oral and maxillofacial features is seen across the spectrum of [inborn errors of metabolism] resulting in a complexity level surpassing the average population,” Hirst et al wrote.

Here are some of the dental and orofacial features these patients might present with:

  • Craniofacial abnormalities. Patients with lysosomal storage disorders, such as lysosomal acid lipase deficiency, tend to have coarse facial features, frontal bossing, dolichocephalic facial patterns, a flattened nasal bridge, and macroglossia.
  • Macroglossia. This sign is of particular concern to dentists because it has an increased correlation with anterior open bite, bimaxillary proclination, and a skeletal III base. Such signs, which can typically be observed in Pompe disease, can cause challenges in speech and mastication.
  • Dental anomalies. A dental anomaly called taurodontism causes an enlargement of the pulp chamber vertically at the expense of the roots. This pathology can sometimes be seen in glycogen storage disorders. Taurodontism can complicate root canal treatment and dental extraction in the event that a patient experiences pulpal involvement with or without apical pathology.

Read more about lysosomal acid lipase deficiency etiology

These physical manifestations of inborn errors of metabolism can vary in their presentation. Ideally, they should be managed in cooperation with the dental team in order to improve clinical outcomes. If surgical intervention is needed, it should be discussed within a multidisciplinary setting, with the decision conveyed respectfully and with care to the patient involved.

Dietary Modification and Dental Impact

Another aspect of care for patients with inborn errors of metabolism is dietary modification. A lifelong restrictive diet is the mainstay of treatment in many patients with inborn errors of metabolism. For example, inborn errors of metabolism affecting protein metabolism are often treated by requiring the patient to restrict his or her protein intake in order to control the intake of the causative amino acid.

Protein restriction in a growing child needs to be carried out with great care because it can be detrimental to his or her growth. It is important that any dietary restrictions imposed do not ultimately harm the child’s healthy growth and development. Hence, metabolic dietitians are best consulted prior to any clinical decision-making on dietary restrictions.

Read more about Pompe disease etiology

To provide energy to growing children, a diet rich in carbohydrates and glucose is often prescribed. However, Hirst et al cautioned, “Dietary modifications in certain IEMs are highly cariogenic, subsequently posing a significant risk to dental health.”

Therefore, instead of waiting before dental defects manifest in earnest, physicians can consider referring newly diagnosed patients with inborn errors of metabolism to pediatric dental services. This allows them to carry out a thorough dental examination to establish baseline results. Should dietary modifications be needed, dentists and dietitians should be in communication to ensure that the patient’s treatment is as streamlined as possible.

The authors of the study poignantly concluded. “Inborn errors of metabolism and their treatment present a multitude of physical and psychological sequelae for the patient and their families . . . Collaboration across the multidisciplinary team is imperative to ensure that metabolic dietary needs are established in accordance with preventative dental advice and coordinated restorative intervention.”


Hirst L, Mubeen S, Chakrapani A. Impact of dietary interventions in inborn errors of metabolism in paediatric dentistry: review of the literature and case seriesClin Case Rep. 2020;9(2):764-768. doi:10.1002/ccr3.3603

Hirst L, Chakrapani A, Mubeen S. Inborn errors of metabolism and their impact in paediatric dentistryJ Inherit Metab Dis. 2022;1-14. doi:10.1002/jimd.12493