Clues and challenges in the diagnosis of intermittent maple syrup urine disease

Keyphrases

• Branched-chain Amino Acids 100%
• Leucine 100%
• Metabolic 100%
• Early Detection 100%
• Maple Syrup Urine Disease 100%
• Derailment 100%
• BCKDHB 100%
• Amino Acid Content 50%
• Branched-chain Amino Acid Metabolism 50%
• Biallelic 50%
• Life-threatening 50%
• Febrile Illness 50%
• Phenotypic Spectrum 50%
• Autosomal Recessive 50%
• Inborn Errors 50%
• Pathogenic Variants 50%
• Dietary Intervention 50%
• Newborn Screening 50%
• Catabolism 50%
• Presenting Symptoms 50%
• Valine 50%
• All-affected 50%
• Cognitively Intact 50%
• Ataxia 50%
• Dehydrogenase 50%
• Mutational Spectrum 50%
• High Index of Suspicion 50%
• α-keto Acids 50%
• Neurological Sequelae 50%
• Non-classic 50%
• Non-specific Symptoms 50%
• Acute Psychosis 50%
• Branched-chain 50%
• Molecular Confirmation 50%
• Metabolic Crisis 50%
• Decreased Consciousness 50%
• Classic Variant 50%
• BCKDHB Gene 50%
• Aminoacidopathies 50%
• DBT Gene 50%
• BCKDHA Gene 50%

Biochemistry, Genetics and Molecular Biology

• Amino Acids 100%
• Amino Acid Metabolism 50%
• Leucine 50%
• Oxidoreductase 50%
• Autosomal Recessive Inheritance 50%
• Dehydrogenase 50%
• Newborn Screening 50%
• DBT (Gene) 50%
• Valine 50%
• Isoleucine 50%