Carnosinemia. A new metabolic disorder associated with neurologic disease and mental defect

MeSH terms

• Amino Acid Metabolism, Inborn Errors*
• Amino Acids / blood
• Amino Acids / cerebrospinal fluid
• Child, Preschool
• Chromatography, Paper
• Dipeptides / administration & dosage
• Dipeptides / blood*
• Dipeptides / cerebrospinal fluid
• Dipeptides / urine
• Humans
• Imidazoles / blood
• Imidazoles / cerebrospinal fluid
• Imidazoles / urine
• Infant
• Intellectual Disability / complications*
• Male
• Myoclonus / complications*