Inborn Errors of Metabolism (IEM)

Inborn errors of metabolism can affect different metabolic pathways, and the physical symptoms vary depending on the specific condition. Symptoms can arise due to various causative mechanisms: examples of diseases treated at our center include Phenylketonuria (PKU), where a defect in the phenylalanine hydroxylase results in accumulation of the amino acid phenylalanine that is neurotoxic at high levels; LCHAD/VLCAD, disorders where the inability to use fatty acids as sources of intracellular energy cause energy depletion and cellular death in organs with high energy needs such as the heart muscle; urea cycle disorders, where the inability to neutralize and discard nitrogen from amino acid degradation can lead to life-threatening ammonia intoxication; Fabry disease, where symptoms are caused by the inability to break down complex molecules resulting in their accumulation in the lysosomes and thus affecting cellular function and organ function (heart, liver, kidneys, nerves); the acute porphyrias, where the accumulation of heme precursors cause a variety of symptoms in the nervous system.  

Our center specializes in the assessment, treatment, and follow-up care of adults with IEM diseases. Outpatient care is based on an interdisciplinary collaboration among physicians, specialized nurses, dieticians, and other health care professionals. Diagnostics and treatment follow-ups are performed in close collaboration with the Center for Inherited Metabolic Diseases (CMMS).  
 
We are part of a network involving several specialist clinics that together earned Karolinska University Hospital certification as a healthcare provider (HCP) by MetabERN – the European reference network for hereditary metabolic disorders.

We offer customized care based on every patient's specific needs, and every patient’s genetic history and health condition are carefully considered. Our treatment is provided in accordance with international guidelines and includes participation in phase II/III studies and early access drug programs.