Potential treatment identified for babies with metabolic disorders

Posted 1 month ago by David McManus
Nearly three-quarters of the fruit flies used to model human infant metabolic disorders in the study were critically affected by what they were fed. [Source: Shutterstock]
Nearly three-quarters of the fruit flies used to model human infant metabolic disorders in the study were critically affected by what they were fed. [Source: Shutterstock]

Although diabetes doesn’t qualify a person for NDIS support, other metabolic disorders may.

Key points:

  • A metabolic disorder occurs when abnormal chemical reactions disrupt the body’s metabolism
  • Causes of metabolic disorders include: genetics, organ dysfunction and mitochondrial dysfunction
  • More than 35 percent of Australian adults have metabolic syndrome. This is higher in people with diabetes


Metabolic disorders consist of the balance between catabolism — producing energy from breaking down larger molecules into smaller ones — and anabolism — consuming energy to build new cells, maintaining body tissues and storing energy.

Metabolic disorders, such as diabetes, do not generally qualify a potential participant for the National Disability Insurance Scheme.

Some inheritable metabolic disorders may lead to permanent disability and qualify you for the NDIS, such as mucopolysaccharidoses diseases — commonly referred to as ‘MPSs.’

According to the Mucopolysaccharide & Related Diseases Society of Australia, MPS disorders are rare genetic disorders in children and adults that involve abnormal storage of mucopolysaccharides, caused by the absence of a specific enzyme.

Partially broken-down mucopolysaccharides accumulate in the body’s cells causing progressive damage. The storage process can affect the appearance, development and function of various organs of the body. Each MPS disease is caused by a deficiency of a specific enzyme.

The MPS diseases are part of a larger group of disorders known as lysosomal storage disorders. For more information on LSDs and related diseases, please visit the MRDSA website.

Researchers have continued to study the likelihood of babies born with inherited metabolic disorders — a group of more than 1400 individual genetic disorders that impact the body’s ability to digest and metabolise nutrients which are crucial for brain and organ development.

In world-first research led by scientists at La Trobe University and Monash University, fruit flies were used to investigate the effect diet has on babies with IMDs.

The findings indicated that the interaction between diet and IMDs has more impact on health than previously thought, with nearly three-quarters of the fruit flies used to model human IMDs in the study critically affected by what they were fed.

In addition, it shows that health could be restored by removing a single micronutrient from their diet — in this case, amino acids, which are the building blocks of protein.

Co-lead researcher Dr Travis Johnson, from the La Trobe Institute for Molecular Science and the School of Agriculture, Biomedicine and Environment, said this research addresses an urgent, unmet need for the development of new precision treatments for IMDs, which on average affect one in 800 newborns per year and have a high death rate in children under five.

“Although there are existing dietary treatments for some IMDs, the rarity and large number of individual disorders make it nearly impossible to develop and test new, tailored dietary treatments, Dr Johnson said.

“As a result, many children continue to die from potentially treatable disease due to a lack of investigation into relatively simple dietary cures.”

For decades, scientists have known that the cause of these disorders, which manifest in the early weeks of infancy, stems from genetic mutations inherited from the baby’s parents.

The mutations affect the baby’s metabolism – their body’s ability to break down nutrients like proteins, fats and carbohydrates into simpler substances which are then converted into energy, promoting growth and development.

Without the ability to process crucial nutrients, babies can suffer brain damage and even death, but current dietary treatments first developed in the 1950s for a limited number of these disorders show that this fate is preventable by feeding the affected babies with a medical formula that has had the relevant nutrient removed.

“With the rarity of these disorders and given that most patients are babies or young children, clinicians cannot easily trial a range of different diets to see what works. With flies, we can do that,” Dr Felipe Martelli, co-first author of the work said.

“We can grow thousands, if not millions, of flies and test a large variety of different treatments to see what works and what doesn’t,” Ms Jiayi Lin, Monash University PhD candidate and co-first author of the paper, said.


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