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  2. www.sciencedirect.com www.sciencedirect.com
    Eleven novel mutations of the BCKDHA, BCKDHB and DBT genes associated with maple syrup urine disease in the Chinese population: Report on eight cases
    2
    1. ClingenBaseline 21 Oct 2026
      Case 6

      Case#: 6, male, 18 m (onset), 2 y 6 m (current), Chinese

      CasePresentingHPOs: HP: 0008344, HP; 0012088, HP: 0011342, HP: 0001332, HP:0002543, HP: 0012751, HP:0012747 (elevated A keto acids in urine, abnormal urinary odor, mild global developmental delay, dystonia, abnormal globus pallidus, abnormal basal ganglia, abnormal brainstem MRI signal intensity)

      HPOsFreeText: damage to cerebellar dentate nucleus, damage to corpora quadrigemina, damage to frontal lobe, damage to insular cortex, Isoleucine: 167.13 uM, Alloisoleucine: 44.88 uM

      CaseNotHPOs: N/A

      NotHPOsFreeText: N/A

      CaseAddInfo: unsure cis or trans

      CasePreviousTesting: same as group

      CaseMethod1: same as group

      CaseMethod2: same as group

      CaseGenotypingMethod: same as group

      Variant: NM_183050.3:c.767A>G (p.Tyr256Cys), NM_183050.3:c.768C>G (p.Tyr256Ter)

      ClinVar: neither found

      CAID: CA364659935, CA142287564

      gnomAD: 0.000008820 (European, non-Finnish), not found

      Individual CaseInfo GenotypingMethod PreviousTesting Variant inferred_gene_hgnc:987 inferred_gene_source:CAID UNC Biocuration Core
    2. ClingenBaseline 21 Oct 2026
      Case 6

      Case#: 6, male, 18 m (onset), 2 y 6 m (current), Chinese

      CasePresentingHPOs: HP: 0008344, HP; 0012088, HP: 0011342, HP: 0001332, HP:0002543, HP: 0012751, HP:0012747 (elevated A keto acids in urine, abnormal urinary odor, mild global developmental delay, dystonia, abnormal globus pallidus, abnormal basal ganglia, abnormal brainstem MRI signal intensity)

      HPOsFreeText: damage to cerebellar dentate nucleus, damage to corpora quadrigemina, damage to frontal lobe, damage to insular cortex, Isoleucine: 167.13 uM, Alloisoleucine: 44.88 uM

      CaseNotHPOs: N/A

      NotHPOsFreeText: N/A

      CaseAddInfo: unsure cis or trans

      CasePreviousTesting: same as group

      CaseMethod1: same as group

      CaseMethod2: same as group

      CaseGenotypingMethod: same as group

      Variant: NM_183050.3:c.767A>G (p.Tyr256Cys), NM_183050.3:c.768C>G (p.Tyr256Ter)

      ClinVar: neither found

      CAID: CA364659935, CA142287564

      gnomAD: 0.000008820 (European, non-Finnish), not found

      Individual CaseInfo GenotypingMethod PreviousTesting Variant inferred_gene_hgnc:987 inferred_gene_source:CAID UNC Biocuration Core
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    sciencedirect.com/science/article/pii/S1769721215300288