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For patients with unexplained mental and motor developmental delay, seizures, recurrent acute encephalopathy, and systemic multisystem manifestations, it is important to conduct early diagnostic investigations such as cranial MRI, EEG, plasma amino acid metabolism, urine organic acid metabolism analysis, CSF metabolism, and genetic testing to clarify the diagnosis

AHK-Cu, or Alanine-Histidine-Lysine-Copper, is a naturally occurring tripeptide complexed with copper that has been investigated for its role in activating copper-dependent enzymatic processes and modulating extracellular matrix proteins involved in tissue structure and repair

B12 levels and symptoms should be reassessed every 36 months, then yearly

S., Griffin, W