Lesser-known metabolic conditions

There are different types of metabolic diseases. Some occur at birth due to defects in genes (inherited diseases), while others may be acquired. Medications and lifestyle are common causes of acquired metabolic diseases. For many people, prescribed drugs, chemotherapy, use of antidepressants, antipsychotic medicines, diuretics and antivirals can result in the breakdown of the normal metabolic processes of the body. The effects can include ill health, fatigue and weight gain. Patients on newer immunosuppressants and immunotherapy are especially at risk of this. There is also a known link between metabolic health and the menopause, Long Covid, kidney stones, infertility and even aspects of men’s health.

Over 200 inherited metabolic diseases exist, with varying symptoms. Their rare nature means that many doctors have no experience in identifying or managing such conditions. It is not unusual for many patients with an inherited metabolic disease to suffer ill health and have a delayed diagnosis. It is important that such conditions are identified using the appropriate targeted tests. And for many doctors the investigation and management of many metabolic conditions can be challenging, particularly if they are rare. This in turn can result in a delayed diagnosis and/or treatment. Doctors sometimes find it difficult to find any diagnosis at all, leaving patients frustrated and often at a dead end.

Rare conditions such as homocystinuria, fish odour syndrome (trimethylaminuria) and other malodour syndromes are also often a result of metabolic imbalances. Some conditions may present with fatigue, muscle symptoms, brain fog or even increased confusion. Similarly, patients with rare inherited conditions may need reassurance regarding other symptoms, as many doctors have no experience with these conditions.