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Common clinical manifestations of 3-methylglutaric aciduria include seizures in the neonatal period or infancy, recurrent apnea leading to respiratory insufficiency, dystonia, and dysphagia [62, 63]

Improvement is real but builds week over week rather than appearing as a sudden change

Furthermore, AGHD sufferers also have suboptimal lipid levels, raising their levels of LDL-cholesterol and triglycerides

73,74 ATP7B, encodes a P-type adenosine triphosphatase metal ion transporter that is mainly expressed in hepatocytes

Complex I is the rate-limiting step of aerobic respiration and has a central role in energy production for metabolism (Sharma et al., 2009)