Enzyme or protein defect
Propionyl-CoA carboxylase
Accumulates or becomes deficient
Propionic acid, 3-hydroxypropionate
Key features
Ketoacidosis, hyperammonaemia, vomiting, hypotonia
Management
Protein restriction, biotin trial, 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
Europe PMC · fetched just now · sorted by publication date
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1
Overcoming hepatic tropism: Precision engineering of lipid nanoparticles for extrahepatic RNA delivery.
Liu Y, Guo X, Hu Q, Gan C, Nie S, Xiang J, Liu Y, Zou J, Wu X, Li C, Tang Y. · 2026-08-18
open access unreviewed -
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
Current status in paediatric liver transplantation for inherited metabolic diseases.
Hadzic N, Dionisi-Vici C, Vara R. · 2026-06-22
unreviewed -
4
Diagnosis and management of very rare primary arrhythmia syndromes in children and adults: a Clinical Consensus Statement of the European Heart Rhythm Association of the ESC and the Association of Cardiovascular Nursing & Allied Professions of the ESC, endorsed by the Association for European Paediatric and Congenital Cardiology.
Sarquella-Brugada G, Mazzanti A, Baban A, Campuzano O, Conte G, Crotti L, Ackerman M, Behr E, Blom N, Chowdhu… · 2026-08-01
cited 1× open access unreviewed -
5
Isoleucine and valine promote prostate cancer progression via propionyl-CoA-mediated cholesterol metabolism.
Li Z, Liu S, Jin W, Xiao L, Kester O, Bullen N, Chen X, Chan UI, Owiredu J, Li Z, Khan R, Endress J, Shafer M… · 2026-08-20
open access unreviewed -
6
EHMN2026<sup>®</sup>T: A License-Aware AI-QSP Integration Framework Linking EHMN2026<sup>®</sup> with TRANSFAC<sup>®</sup>, TRANSPATH<sup>®</sup> and HumanPSD™ for Diagnostic-Metabolite Interpretation.
Goryanin I, Slovianov L, Goryanin IV, Kel A. · 2026-07-04
open access unreviewed -
7
Energetic stress in combination with impaired fatty acid oxidation induces sequestration of CoA and adaptation of CoA metabolism.
Kiyuna LA, Odendaal C, Singh M, Gerding A, Langelaar-Makkinje M, van der Zwaag M, Drachman A, Cetkovská V, Ki… · 2026-02-07
open access unreviewed -
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
Simplifying supplementation in MSUD: tolerance and acceptability of liquid valine and isoleucine supplements in maple syrup urine disease.
Tosi M, Daly A, Evans S, Pinto A, Ashmore C, MacDonald A. · 2026-04-02
open access unreviewed -
10
Metabolomic analysis reveals the role of gut microbiota metabolic disorders in heart failure due to congenital heart disease.
Zhang QL, Ou QX, Wang Y, Liu YN, Zeng YT, Chen Q, Wang ZC. · 2026-04-01
open access unreviewed
External claims. These come from an index outside this database and are not checked against it. Treat them as leads.