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INHERITED METABOLIC DISORDERS.
INDIVIDUALLY RARE, COLLECTIVELY NUMEROUS.

Inherited metabolic disorders refer to different types of medical conditions caused by genetic defects - most commonly inherited from both parents - that interfere with the body's metabolism, the process of converting food to energy on a cellular level via special enzymes that help break it down.

In most inherited metabolic disorders, a single enzyme is either not produced by the body at all or is produced in a form that does not work. Depending on that enzyme's role, its absence means toxic chemicals may build up, causing, if not managed, a wide array of symptoms such as delays in physical and mental development, or an essential product may not be produced.

Each inherited metabolic disorder is quite rare in the general population. Considered all together, inherited metabolic disorders may affect about 1 in 1'000 to 2'500 newborns.

PKU MANAGEMENT: NOT ALL PROBLEMS ARE SOLVED

PKU (Phenylketonuria) is a rare, genetic, recessive metabolic disorder affecting about 50'000 people worldwide and characterized by the lack or the malfunctioning of a liver enzyme needed to process Phenylalanine ("Phe"), an essential amino acid¹.

Excessive amounts of Phe in the bloodstream are mirrored in the brain, impairing the normal development of the central nervous system. If not properly treated, PKU leads to severe, nonrecoverable mental retardation and major cognitive impairments¹.

There is no cure for PKU, it can only be treated through a strict, life-long, low-protein (low-Phe) dietetic treatment combined with a daily assumption of Medical Foods which provide Phe-free amino acids and other important nutrients, needed due to the dietary restrictions of PKU patients¹.

The primary aim of the dietary treatment is to prevent adverse neurocognitive and psychological outcomes by restricting the intake of protein from natural foods to maintain blood Phe level within the recommended ranges².

However, scientific evidence indicates that significant sub-optimal unmet needs still exist in PKU patients such as:

1. The efficacy of the treament is strongly influenced by compliance with the recommended diet, which includes protein substitutes with Phe-free amino acids (AA)^3,4. Adherence with diet can be poor due to the unpleasant taste, smell and after taste of amino acids mixes³.

The development of an amino acid mixture with organoleptic properties acceptable to all patients remains a challenge.

Phe-free supplementations are associated with a lower biological efficiency compared with natural protein sources¹. Protein substitutes with the ability to prolong absorption of AAs, mimicking physiological absorption kinetics of intact natural proteins, may allow a more efficient AA utilization, and thus contribute to support effectively normal growth and an overall healthy body composition⁵.

References:

Van Wegberg et al. The complete European guidelines on Phenylketonuria: diagnosis and treatment. 2017. Orphanet Journal of Rare Diseases 12:162
MacDonald A et al. Adherence Issues in Inherited Metabolic Disorders Treated by Low Natural Protein Diets. 2012. Ann Nutr Metab 61:289
Enns GM et al. Suboptimal outcomes in patients with PKU treated early with diet alone: revisiting the evidence. 2010. Molecular genetics and metabolism 101(2-3):99
MacDonald A., et al. Optimising amino acid absorption: essential to improve nitrogen balance and metabolic control in Phenylketonuria. 2018. Nutrition Research Reviews 4:1-9
Gropper SS and Acosta PB. Effect of simultaneous ingestion of L-amino acids and whole protein on plasma amino acid and ureanitrogen concentrations in humans. 1991. JPEN J Parenter Enteral Nutr. 15:48

PKU GOLIKE is a brand new generation of food for special medical purposes for a real change in PKU dietary management: thanks to APR patented Physiomimic™ Technology it provides physiological absorption of amino acids while masking unpleasant taste and odour as well as preventing aftertaste.

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INHERITED METABOLIC DISORDERS. INDIVIDUALLY RARE, COLLECTIVELY NUMEROUS.

PKU MANAGEMENT: NOT ALL PROBLEMS ARE SOLVED

INHERITED METABOLIC DISORDERS.
INDIVIDUALLY RARE, COLLECTIVELY NUMEROUS.