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 · from cache · 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 4× open access unreviewed -
2
Ketogenic Diet-Based Therapy for Fatigue in Patients with Multiple Sclerosis.
Filippi F, Lorenzut S, Garbo R, Lamon E, Del Negro I, Nilo A, Pez S, Gigli GL, Valente M. · 2026-05-08
open access unreviewed -
3
A Novel Variant in an Israeli Bedouin Family: The First Reported Cases of Carbonic Anhydrase VA (CA5A) Deficiency in Israel.
Abelson N, Kristal E, Hershkovitz E, Wormser O, Dolgin V, Amar S, Staretz-Chacham O. · 2026-05-01
open access unreviewed -
4
American Epilepsy Society Clinical Practice Guideline: Infantile Epilepsy.
Freedman D, Babatunde I, Morgan RL, Abu-Sawwa R, Albert D, Behbahani M, Chapman K, Fecske E, Gaillard WD, Jon… · 2026-04-08
open access unreviewed -
5
From clinical practice to mechanistic insights in ketogenic diets for epilepsy.
Figueroa AG, Joshi CN, Patel MN. · 2026-03-11
unreviewed -
6
Beyond BRUE (Brief Resolved Unexplained Event): Recurrent Unexplained Events Revealing Congenital Hyperinsulinism in Infancy.
Khan MA, Khan F, Chohan N, Alsamawi S. · 2026-04-30
open access unreviewed -
7
Pyruvate Dehydrogenase Complex Deficiency: A Review of Treatments and Case Series.
Betesh-Abay B, Shany E, Staretz-Chacham O, Shelef I, Azab AN. · 2026-03-17
cited 1× open access unreviewed -
8
A novel homozygous CA5A gene deletion in carbonic anhydrase VA deficiency presenting as developmental delay without metabolic crisis.
Bin Hadyan MF, Saleh MA, Aldalaqan S, Mushiba AM, Alasmari AM, Faqeih EA, Peer-Zada AA. · 2026-02-17
open access unreviewed -
9
Mitochondrial Dysfunction in Propionic Acidemia: A Case-Report and Review of the Literature.
Walther BK, Murray BM, Pandiyan P, Ray R, Yeoh L, Kritzer A. · 2026-02-04
open access unreviewed -
10
Ketogenic Diet Versus Immunological Therapy in the Management of Refractory Epilepsy in Children.
Elasheer OM, Eldaly EH, Gad EF, Elgalaly NA, Raafat DM, ElGyar N. · 2026-02-09
open access unreviewed
External claims. These come from an index outside this database and are not checked against it. Treat them as leads.