The Ketogenic Diet and Inherited Metabolic Disorders

Can a medically supervised ketogenic diet improve a child’s inherited metabolic disorder? 

Inherited metabolic disorders are genetic conditions that cause metabolic problems and are passed down through the DNA. 

Metabolism is a complex chemical process in which the body uses enzymes to break down carbohydrates, proteins, and fats from food to power all of the functions the body needs.  

Metabolism also involves protecting the body from excess buildup of substances like nitrogen and eliminating them through urine. 

Fortunately, inherited metabolic disorders are rare ─ affecting an average of 218,000 people (1). However, they do occur. 

Before birth, parents can check the baby for some of these inherited disorders through amniocentesis or chorionic villus sampling. After birth, newborn screening tests are often able to detect many of these conditions. 

Although over 500 types of inherited metabolic disorders exist, there are some disease states where ketogenic foods provide critical therapeutic value. Such disorders include: 

  1. Pyruvate dehydrogenase complex (PDC) deficiency ─ a disorder of carbohydrate metabolism caused by a deficiency of enzymes in the pyruvate dehydrogenase complex. With this disorder, there’s a harmful buildup of lactic acid in the body plus a number of neurological and developmental problems. 
  2. Multiple acyl-coenzyme A dehydrogenase deficiency (MADD) ─ a fatty acid and amino acid disorder that can involve metabolic acidosis, heart-muscle disease, and liver disease. 
  3. Glucose transporter type 1 (GLUT1) deficiency syndrome ─ a metabolic disorder marked by deficiency of a protein needed for glucose to cross the blood-brain barrier and provide energy for the brain. Symptoms can include: epilepsy; abnormal eye-head movements; body movement disorders; developmental delays; cognitive impairment; and slurred speech. 

Other disorders such as Angelman syndrome are considered developmental disorders that mainly affects the nervous system through delayed development, intellectual disability, severe speech impairment, and movement and balance problems. 

How do ketogenic foods fit in? 

The ketogenic diet’s modern origins in the U.S. dates back to the 1920s when physicians began prescribing the diet to patients for epileptic seizures. 

Water-soluble compounds in ketogenic food called “ketone bodies” ─ acetoacetate, beta hydroxy butyrate (BHB) and acetoacetate ─ often provide significant benefits for infants and children with metabolic and developmental disorders, including conditions also marked by epilepsy or movement disorders. 

Ketones are used by the body as an energy source in the absence of carbohydrates and when levels of glycogen dip. Glycogen are carbs that are stored in tissue as an energy source. 

Ketones are byproducts of the body breaking down fat for energy that happens when carbohydrate consumption is low. The body looks for an alternate source of fuel. In this case, the source is ketones. 

In a way, nutritional ketosis tricks the brain into adjusting the function of special brain structures called synapses. Ketones appear to calm the brain ─ moderate functions, reduce inflammation, and protect the brain from dangerous tissue damaging molecules called free radicals. 

Recent research has shown encouraging benefits of the ketogenic diet on various conditions including: 

  • Pyruvate dehydrogenase complex (PDC) deficiency. In a 1997 study, researchers gave a medical ketogenic diet (with different levels of carb restriction) to seven boys with PDC deficiency. Those children who had the lowest-carb diet had improved mental development and longevity (2). 
  • Multiple acyl-coenzyme A dehydrogenase deficiency (MADD). In a 2014 case report, researchers were able to reverse some of the worst symptoms in an infant with a severe case of MADD by providing BHB (3). 
  • Glucose transporter type 1 (GLUT1) deficiency syndromeAccording to the author of a 2004 study (4), the benefits of a ketogenic diet with GLUT1 deficiency syndrome “cannot be stressed enough—of 28 patients identified and treated in Europe since 1999, all but two became seizure free without […] anticonvulsant medications.” 

trumacro™ Nutrition is committed to improving lives through the therapeutic use of ketogenic (low-carb, high-fat) products and technologies. trumacro’s BHB formulation is being used in a study involving three infants with multiple acyl coenzyme A dehydrogenase deficiency (MADD), in addition to ongoing research studies using trumacro’s BHB+MCT and ketogenic foods in Angelman syndrome and epilepsy.  

References

  1. Kruszka P and Regier D. “Inborn errors of metabolism: From preconception to adulthood.” Am Fam Physician. 2019;99(1):25-32.
  2. Wexler ID, et al. “Outcome of pyruvate dehydrogenase deficiency treated with ketogenic diets: Studies in patients with identical mutations.” Neurology. 1997;49(6):1655-1661.
  3. Gautschi M, et al. “Highly efficient ketone body treatment in multiple acyl-CoA dehydrogenase deficiency-related leukodystrophy.” Pediatr Res. 2015;77(1-1):91-98.
  4. Klepper J, et al. “Effects of the ketogenic diet in the glucose transporter 1 deficiency syndrome.” Prostaglandins Leukot Essent Fatty Acids. 2004;70(3):321-327.

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