ArticleJIMD reports2019
Beta-ketothiolase deficiency: A case with unusual presentation of nonketotic hypoglycemic episodes due to coexistent probable secondary carnitine deficiency.
Article in JIMD reports, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
7 citing papers in PubMed, 6 citations in OpenAlex.
- Beta-ketothiolase deficiency with neurological impairment: a case report.Annals of medicine and surgery (2012) · 2025Article
- Comparison of Ketogenesis and Ketolysis Defects: A Retrospective Single-Center Study of 30 Patients.Turkish archives of pediatrics · 2025Article
- Short-chain enoyl-CoA hydratase deficiency causes prominent ketoacidosis with normal plasma lactate levels: A case report.Molecular genetics and metabolism reports · 2020Article
- 2-methylacetoacetyl-coenzyme A thiolase (beta-ketothiolase) deficiency: one disease - two pathways.Orphanet journal of rare diseases · 2020Article
- Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency.Human mutation · 2019Review
- Beta-ketothiolase deficiency: A case with unusual presentation of nonketotic hypoglycemic episodes due to coexistent probable secondary carnitine deficiency.JIMD reports · 2019Article
- Two Infants With Beta-Ketothiolase Deficiency Identified by Newborn Screening in China.Frontiers in genetics · 2019Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
11 authors at 4 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Beta-ketothiolase (T2, mitochondrial acetoacetyl-CoA thiolase) deficiency is an autosomal recessive disorder of isoleucine catabolism and ketone body metabolism that is characterized by increased urinary excretion of 2-methylacetoacetate, 2-methyl-3-hydroxybutyrate, and tiglylglycine. Most patients with T2 deficiency develop their first severe ketoacidotic events between 5 and 24 months of age. We encountered a case of T2 deficiency who developed the first hypoglycemic crisis without ketosis during her neonatal period and repeated such nonketotic hypoglycemic crisis during her infancy and early childhood. This is a very atypical clinical phenotype in T2 deficiency. We finally realized that she also has severe carnitine deficiency which might suppress beta-oxidation resulting in nonketotic hypoglycemia. After carnitine supplementation, she actually developed episodes with ketonuria. Her carnitine deficiency was probably a secondary deficiency which is rare in T2 deficiency but if present, may modify the clinical manifestation of T2 deficiency from ketoacidotic events to hypoketotic hypoglycemic events.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.