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 · from cache · sorted by publication date
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1
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 -
2
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 -
3
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 -
4
RNA-Based Therapies for Inherited Metabolic Disorders.
Vootukuri RS, Gurung S, Ghosh R, Mills PB, Baruteau J, Zhou H. · 2026-03-01
cited 1× open access unreviewed -
5
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. · 2026-01-01
open access unreviewed -
6
The mRNA-Based Innovative Strategy: Progress and Challenges.
Zhou H, Wei D, Chen Z, Chen H, Dong C, Yao W, Wang J, Liu X, Li Y, Yang Y, Tan W. · 2026-01-15
cited 2× open access unreviewed -
7
Nutritional management of metabolic disorders in neonates and infants in Saudi Arabia: consensus recommendations.
Handoom B, Alohali E, Elsagher H, Alohali L, Alhamed N, Alabyad W. · 2025-11-17
open access unreviewed -
8
Trial Readiness: Understanding the Natural History of Rare Diseases.
Opladen T, Mütze U, Gleich F, Garbade SF, Kuseyri Hübschmann O, Zielonka M, Kölker S. · 2025-11-01
cited 1× open access unreviewed -
9
The therapeutic effects of ketogenic diet, lacosamide, and combination therapy in children with refractory epilepsy.
Pang Q, Li B, Zhang S, Li J. · 2025-10-03
open access unreviewed -
10
Using modified mRNA for cardiomyocyte proliferation and cardiac genetic disease modelling and treatment.
Batho CAP, Hudson JE, Wilson CH. · 2025-10-01
open access unreviewed
External claims. These come from an index outside this database and are not checked against it. Treat them as leads.