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BCKDHA/B, DBT AR unreviewed

Maple syrup urine disease

BCAA catabolism

Enzyme or protein defect

Branched-chain alpha-ketoacid dehydrogenase

Accumulates or becomes deficient

Branched-chain alpha-keto acids (esp. leucine)

Key features

Burnt-sugar/maple urine odour, poor feeding, ketoacidosis, encephalopathy

Management

BCAA-restricted diet; thiamine trial

Not clinical guidance. Written from standard clinical biochemistry, not from the uploaded documents, and marked unreviewed. Teaching-level reference for study and database seeding only. It must not be used to manage a patient.

Recent literature

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Europe PMC · fetched just now · sorted by publication date

  1. 1
    Preoperative NLR and INR, and intraoperative cold ischemia time as predictors of short-term mortality risk in paediatric liver transplantation: a LASSO-cox model study.

    Zhang Q, Tang H, Zhang J, Weng J, Liu W, Dai X, Zhang M. · 2026-07-28

    open access unreviewed
  2. 2
    Branched-chain amino acids and gut microbiota: coregulation and impact on neurological function via the gut-brain axis.

    Li Q, Fan B, Xiao Y, Zhang Z, Zhao S, Liao B, Zeng J, Shan X, Ye H, Wen Y, Zhang L, Guo H, Xiao F, Zhu H. · 2026-07-14

    open access unreviewed
  3. 3
    Essential Oral Single Nutritional Therapy Products for Inherited Metabolic Diseases: Evidence and Consensus Assessment Using a Modified Delphi Method.

    Stolwijk NN, Penninx BMF, Bosch AM, Langeveld M, Salomons GS, Hollak CEM, Essential Nutritional Therapy Produ… · 2026-11-01

    open access unreviewed
  4. 4
    Inborn Errors of Metabolism: Pathophysiological Insights, Diagnostic Advances, and Evolving Treatment Paradigms.

    Sadaria R. · 2026-06-19

    open access unreviewed
  5. 5
    Acrodermatitis Dysmetabolica as a Cutaneous Manifestation of Isoleucine Deficiency in Maple Syrup Urine Disease: A Systematic Review of Reported Cases.

    Abtahi-Naeini B, Heidari-Beni M, Rostampour N, Davoudi N, Seyedyousefi S. · 2026-09-22

    open access unreviewed
  6. 6
    The psychological burden of nutritional treatment in inherited metabolic disorders: Navigating daily life

    Venema A, Withaar F, de Boer F, Bosma R, Derks T, van Vliet D, Fokkert-Wilts M, Hoekstra Y, van der Klauw M, … · 2026-09-25

    open access unreviewed
  7. 7
    Dried Blood Spot-Based Monitoring of Dietary Treatment in Children, Adolescents, and Young Adults with Inherited Disorders of Amino Acid Metabolism: A Four-Year Pilot Study.

    Kowalik A, Głąb-Jabłońska E, Taybert J, Nogalska M, Sasin-Rokita M, Chełchowska M, Myszkowska-Ryciak J, Sykut… · 2026-09-16

    open access unreviewed
  8. 8
    Spectrum of inherited metabolic disorders diagnosed through newborn screening and symptomatic referrals in Eastern Türkiye.

    Arslan S, Ekinci Uğan F, Yaralı O, Kahveci H. · 2026-09-04

    open access unreviewed
  9. 9
    A systematic approach to MR spectroscopy of the brain: Indications, protocol, metabolites, and spectral analysis in neurologic diseases.

    Rahman SM, Peng A, Si K, Kenny-Howell CL, Singh M, Asif MA, Rahman SZ, Rahmani S, Pasquini L, Adin M, Schrick… · 2026-09-12

    open access unreviewed
  10. 10
    Continuous Renal Replacement Therapy for Acute Decompensation in Inborn Errors of Metabolism: Single-Center, Pediatric Cohort, 2014-2025.

    Akyüzlüer Güneş MS, Köse E, Eyduran E, Kaymaz D, Kaya L, Havan M, Okulu E, Kendirli T, Eminoğlu FT. · 2026-09-11

    unreviewed

External claims. These come from an index outside this database and are not checked against it. Treat them as leads.