Enzyme or protein defect
Pyruvate carboxylase
Accumulates or becomes deficient
Lactate
Key features
Lactic acidosis, hypoglycaemia, neurological disease
Management
Supportive; aspartate/citrate supplementation
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
The ketogenic diet is not for everyone: contraindications, side effects, and drug interactions.
Dyńka D, Rodzeń Ł, Rodzeń M, Łojko D, Karakuła-Juchnowicz H, Ede G, Grzywacz Ż, Antosik K, Sethi S, Unwin D. · 2026-01-04
cited 10× open access unreviewed -
2
Type B Lactic Acidosis: Diagnosis, Etiology and Treatment - An Educational Review.
Cardenas Fimbres JA, Cardenas Fimbres JM, Stewart C, Tobias JD. · 2026-08-31
open access unreviewed -
3
FoxO transcription factors coordinate the urea cycle and gluconeogenesis by controlling <i>Ass1</i>.
Karkoutly S, Takeuchi Y, Saber ZM, Tao D, Mendsaikhan T, Saikawa R, Aita Y, Murayama Y, Shikama A, Masuda Y, … · 2026-08-31
open access unreviewed -
4
The Spanish Uniform Newborn Screening Panel (SUSP): A National Consensus Framework for Harmonized Newborn Screening.
García-Villoria J, López-Galera RM, Delgado-Pecellín C, Rausell Félix D, Colón C, Rocha H, Pérez B, Ribes A, … · 2026-08-13
open access unreviewed -
5
Anti-Inflammatory and Antioxidant Strategies in Epilepsy: From Molecular Mechanisms to Threshold Management.
Trofimov A, Shcherbakova K, Schwarz A, Akbay B, Karapina O, Myrkhiyeva Z, Shirokov E, Kizatov B, Zhukanov K, … · 2026-07-24
open access unreviewed -
6
Chronotype and FibroScan-Derived Liver Markers in Adults with Obesity: Preliminary Evidence from a Cross-Sectional Study.
Cerabino N, Guido D, Bonfrate L, Shahini E, Di Stasi V, Di Chito M, Pastore MN, Coletta S, Ancona A, Giannell… · 2026-07-16
open access unreviewed -
7
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 -
8
Neonatal Acute Liver Failure due to Citrin Deficiency (NALFCD).
Chan HY, Wong R, Fung CW, Belaramani KM, Mak CM, Yeung M, Chan T, Yeung C, Kwok Y, Kwok AM. · 2026-07-22
open access unreviewed -
9
Regulation and clinical manifestations of gluconeogenesis dysfunction.
Bobok N. · 2026-07-21
open access unreviewed -
10
Long-Term Follow-Up of Patients With Mitochondrial Carbonic Anhydrase VA Deficiency. A Case Report and Literature Review.
Shurrab S, Mobarak A, Horvath G, Stocker-Ipsiroglu S, van Karnebeek C, Salvarinova-Zivkovic R. · 2026-06-28
open access unreviewed
External claims. These come from an index outside this database and are not checked against it. Treat them as leads.