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MMUT / MMAA / MMAB AR unreviewed

Methylmalonic acidaemia

Propionyl-CoA metabolism Methylmalonyl-CoA mutase (or cobalamin handling)

Enzyme or protein defect

Methylmalonyl-CoA mutase (or cobalamin handling)

Accumulates or becomes deficient

Methylmalonic acid

Key features

Ketoacidosis, hyperammonaemia, failure to thrive

Management

B12 (hydroxocobalamin) trial, protein restriction, carnitine

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
    Maternal Vitamin D Deficiency During Pregnancy Alters Hepatic Metabolism in Adult Female Offspring Without Overt Metabolic Dysfunction.

    Isogai M, Imai N, Ogawa T, Hayashi Y. · 2026-07-17

    unreviewed
  2. 2
    Low Vitamin D Levels Are Associated With Increased Risk of Musculoskeletal Injuries in Collegiate Athletes.

    Frank AM, Joachim MR, Sanfilippo JL, Call CJ, Hetzel SJ, Brooks MA, Spiker AM. · 2026-03-04

    unreviewed
  3. 3
    Serum 25-Hydroxyvitamin D Deficiency Is Independently Associated with Cognitive Impairment, Depressive Symptoms, and Functional Dependency in Hospitalised Older Adults: A Cross-Sectional Study from Central Romania.

    Donca V, Avram L, Cosma T, Rus D, Nemes A, Balan A, Serban A, Ungur R, Crisan D. · 2026-06-24

    unreviewed
  4. 4
    Type 2 Diabetes Causally Reduces Circulating Vitamin D Levels: A Multi-Ancestry Mendelian Randomization Study.

    Rout M, Blackett P, Sanghera DK. · 2026-06-16

    unreviewed
  5. 5
    Vitamin D Deficiency Is Associated with Increased Mortality and Seizure Risk After Nontraumatic Subarachnoid Hemorrhage: A Propensity Score-Matched Cohort Study.

    Amasa S, Radfar P, Adams A, Collier A, Buendia J. · 2026-05-08

    open access unreviewed
  6. 6
    Clinical Outcomes and Correlation With Biochemical Control in Hydroxocobalamin-Treated Patients With Early-Onset Cobalamin C Disease.

    Selvanathan A, Hertzog A, Russell J, Junek R, Ellaway C, Lichkus K, Tolun AA, Bhattacharya K. · 2026-04-27

    open access unreviewed
  7. 7
    Letter to the Editor: 'Rare but relevant: Genetic liver disease in the general medical setting'.

    McCarron EP. · 2026-03-07

    open access unreviewed
  8. 8
    Magnetic resonance imaging features and neurodevelopmental prognosis in infants diagnosed with organic acidaemia.

    Zhang R, Hou X, Liu N, Yang Y, Song J, Zhao Y, Liu L, Zhu Y. · 2025-10-14

    unreviewed
  9. 9
    Postoperative Complications of Single-Level Lumbar Spine Fusion in Patients With Preoperative Vitamin D Deficiency: A Retrospective Cohort Study.

    Garcia D, Sayegh J, Michael BR, Hindosh Y, Lujan A, Khoshaba R, Moghamis IS, Du P, Alhammoud A. · 2025-10-09

    cited 2× open access unreviewed
  10. 10
    Correlation analysis of serum 25(OH)D levels with white matter hyperintensities and gait disorders in patients with cerebral small vessel disease.

    Xie L, Liu L, Tan H, Gao J. · 2026-04-11

    open access unreviewed

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