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Metabolic Disorders: Part Two

Annalies Corse BMedSc, BHSc

Written for and originally published by the MINDD Foundation:

 In Part One of this article, the breadth of metabolic disorders was discussed. The important take away points from Part One included the following:

  • Metabolism is the sum total of all chemical reactions in the human body. Referring to metabolism by a simple reference to weight loss and weight gain is not entirely correct.
  • Metabolism consists of thousands of chemical reactions, where chemical entities are either synthesized for the body (anabolism), or broken down by the body (catabolism).
  • Metabolic reactions are accomplished by enzymes. Functionality of these enzymes is critical to your health, and is governed by your genes.

Treatment of Metabolic Disorders

As discussed in part one, the vast majority of metabolic disorders are genetic. They are heritable and exceptionally atypical. Most are autosomal recessive conditions, meaning that an affected child would need to inherit two copies of a faulty gene, one from each parent. Each parent would be a carrier of the faulty gene, and would likely be unaware of their genetic carrier status. Each carrier parent has one functional copy of the gene, and one faulty copy. The functional gene copy will correctly synthesize its enzyme product and compensate for the faulty gene + enzyme. No signs or symptoms of disease would be present for the parents.

The autosomal recessive inheritance pattern of metabolic disorders does prove problematic for prevention. Most parents are unaware they are carriers of specific genetic mutations, and the likelihood of having a child with a partner carrying the same mutation is exceedingly rare; too rare for pre-natal genetic screening of all babies to be necessary or feasible. In reality, the genetic mutation would have occurred many generations ago, and has been passed on through families, often undetected. Additionally, there are literally hundreds of metabolic disorders, and all require their own unique treatment approach; there is no blanket clinical protocol for treatment.

If a metabolic disorder is inherited, treatment options usually follow this clinical pattern:

  • If a specific food, drug or amino acid cannot be metabolized properly, its intake must be reduced or completely eliminated.
  • Enzymatic replacement of the faulty enzyme. This is only an option if enzymatic replacement (usually in the form of a medication) of the faulty enzyme actually exists.
  • Removal of toxic substances that accumulate via the faulty metabolic pathway.
  • Specific diets can remove specific macro or micronutrients that are not metabolized correctly.
  • Specific micronutrient supplements can support faulty metabolic pathways, depending on the specific metabolic disease in question.
  • Specific drug treatments to detoxify the blood of toxic metabolic by-product may be possible, depending on the disease in question.

As you can appreciate, altering diets to such a significant extent to reduce the possibility of other deficiencies and to prevent further illness requires the assistance of medical and nutritional experts.

Prevention of Metabolic Disorders

Searching for information on the prevention of metabolic diseases is often fraught with frustration, as most sources will lead you to information regarding how to combat and prevent the metabolic syndrome (i.e., the cluster of conditions involving insulin resistance, obesity, dyslipidaemia and type II diabetes mellitus). Additionally, metabolic disorders are inherited, thus prevention is often deemed to be impossible, as they are inherited genetic disorders.

Despite this, there are ways of eating and living life that are known to protect DNA and enhance the correct replication of DNA (thus preventing further mutations and even providing the healthiest genome possible to your future off spring). Whilst they may not prevent 100% of metabolic disorders in affected families, these strategies seek to safeguard the general health of all individuals and support healthy genes, from their replication through to gene expression. Additionally, well functioning organs and tissues will support treatments for metabolic disorders, and will have all affected individuals well placed to experience the best health the possibly can. This is the science of nutrigenomics; the “Genome-Food Interface”.

  • Cease all cigarette smoking and address excessive alcohol consumption. Both are known to have detrimental effects on our genes and how they function. Seek help to find ways to abstain from cigarettes permanently.
  • Many nutrients regulate gene expression, including folate, zinc, EPA and DHA to name just a few. Seek assistance from a health professional specializing in clinical nutrition and wholefood eating to formulate eating plans high in genome protecting nutrients.
  • Phytochemicals such as flavonoids, carotenoids, coumarins and phytosterols are also known to regulate gene expression. This is simple; eat lots of fruit and vegetables in abundance, everyday. This is especially important for both men and women in their reproductive years.
  • Healthy levels of folate, vitamin B12, niacin, vitamin E, retinol, and calcium are linked to decreased levels of DNA damage; riboflavin, pantothenic acid, and biotin are associated with an increase in DNA damage to the same extent observed with occupational exposure to genotoxic and carcinogenic chemicals. Do not self-prescribe supplements and gather information from integrative health professionals before considering supplementation.

Where to seek assistance

Many countries employ newborn screening programs to investigate the presence of metabolic disorders at birth. For example, screening for PKU forms part of the newborn screening panel. The diseases chosen for screening at birth have met certain clinical criteria for their inclusion in screening; the testing is reliable and non-invasive, and the treatment is straightforward and life saving. Many metabolic conditions do not manifest clinical signs at birth and are diagnosed in infancy or even later once evident signs and symptoms appear. In most cases, infants and children will be under the care of a specialist Paediatrician, and one who sub-specializes in specific metabolic conditions.

Children and adults with metabolic disorders will require lifelong care and can often become ill very quickly. It is essential that they receive care from both their medical specialists and ideally an integrative doctor with their allied health teams. The MINDD Foundation is an excellent resource for locating doctors, nutritionists, naturopaths, pharmacists, dieticians and nurses experienced in the treatment of these rare and high-care diseases.

“There is increasing evidence that genome instability, in the absence of overt exposure to genotoxicants, is itself a sensitive marker of nutritional deficiency”.

–Michael Fenech, CSIRO Genome Health and Nutrigenomics Laboratory


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