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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
    Calcifediol Treatment Improves Skin Wound Healing in Vitamin D Deficiency Obese Rats.

    Torrecillas-Baena B, Pulido-Escribano V, Camacho-Cardenosa M, Carmona-Luque MD, Castillo-Peinado LLS, Priego-… · 2026-09-17

    open access unreviewed
  2. 2
    Engineering mRNA-LNP Medicines for the Ageing Brain: Opportunities and Challenges for Neurodegenerative Diseases.

    Belaidi AA, Furtado DL, Alves F, Nisbet RM, Ayton S, Bush AI. · 2026-09-08

    open access unreviewed
  3. 3
    Seasonal 25-hydroxyvitamin D levels in new childhood-onset SLE: associations with disease activity and peripheral lymphocyte subsets.

    Wei C, Zhi S, Li J, Jiang L, Zhao X, Su Q, Qi X, Zhao H, Rong Z. · 2026-09-01

    open access unreviewed
  4. 4
    Current status in paediatric liver transplantation for inherited metabolic diseases.

    Hadzic N, Dionisi-Vici C, Vara R. · 2026-06-22

    unreviewed
  5. 5
    Risk Factors for Osteoporotic Vertebral Compression Fracture and Evaluation of Clinical Outcomes of Minimally Invasive Vertebral Augmentation.

    Zhu Z, Li Y, Chen J, Su S, Tao R, Wang D. · 2026-01-23

    open access unreviewed
  6. 6
    Endometrial Vitamin D Signaling and Immune Escape in Recurrent Pregnancy Loss.

    Voros C, Chatzinikolaou F, Papadimas G, Papapanagiotou I, Zagorianakou N, Gunes AC, Koulakmanidis AM, Karpouz… · 2026-08-03

    open access unreviewed
  7. 7
    Does the Combination of Abdominal Obesity and Vitamin D Deficiency Increase the Risk of Death in Individuals Aged 50 or Older? Evidence From the ELSA Study.

    da Silva Milliati J, Barros Pereira da Silva T, de Oliveira Máximo R, Marques Luiz M, Souza Lima S, Steptoe A… · 2026-05-06

    cited 1× open access unreviewed
  8. 8
    Vitamin D Status in Pediatric Oncology Patients in Lebanon: A Comparison With Non-oncology Controls in a Case-Control Study.

    Al Zohbi R, Sbeiti N. · 2026-07-18

    open access unreviewed
  9. 9
    Clinical, magnetic resonance imaging, and neuropathological features of suspected inborn methylmalonic aciduria in a domestic shorthair kitten.

    Fisher C, Degl'Innocenti S, Ortiz A, Major A, Rawson F, Scarin G, Fadda A. · 2026-07-01

    open access unreviewed
  10. 10
    Visual analysis of the literature on postmenopausal osteoporosis-related hormone research: Current status and future trends (2004-2024).

    Li Y, Jin B, Li K, Zou S, Meng L. · 2026-07-01

    open access unreviewed

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