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Description
GPs have little knowledge of this disorder as it is so rare and it is often the patient that comes up with the diagnosis and then has to persuade the GP to get them tested or to be referred to a specialist centre.Getting referred to a specialist metabolic service is very important to obtain the correct treatment and management
National Health Service (2022)
Some patients received l-carnitine replacement therapy by the attending physician's discretion
doi: 10.46989/001c.154588 Kolenda Zloic Sanda
