Recent advances in understanding beta-ketothiolase (mitochondrial acetoacetyl-CoA thiolase, T2) deficiency.
J Hum Genet
; 64(2): 99-111, 2019 Feb.
Article
in En
| MEDLINE
| ID: mdl-30393371
ABSTRACT
Beta-ketothiolase (mitochondrial acetoacetyl-CoA thiolase, T2) deficiency (OMIM #203750, *607809) is an inborn error of metabolism that affects isoleucine catabolism and ketone body metabolism. This disorder is clinically characterized by intermittent ketoacidotic crises under ketogenic stresses. In addition to a previous 26-case series, four series of T2-deficient patients were recently reported from different regions. In these series, most T2-deficient patients developed their first ketoacidotic crises between the ages of 6 months and 3 years. Most patients experienced less than three metabolic crises. Newborn screening (NBS) for T2 deficiency is performed in some countries but some T2-deficient patients have been missed by NBS. Therefore, T2 deficiency should be considered in patients with severe metabolic acidosis, even in regions where NBS for T2 deficiency is performed. Neurological manifestations, especially extrapyramidal manifestations, can occur as sequelae to severe metabolic acidosis; however, this can also occur in patients without any apparent metabolic crisis or before the onset of metabolic crisis.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Acetyl-CoA C-Acyltransferase
/
Neonatal Screening
/
Amino Acid Metabolism, Inborn Errors
Type of study:
Prognostic_studies
Limits:
Humans
/
Newborn
Language:
En
Journal:
J Hum Genet
Journal subject:
GENETICA MEDICA
Year:
2019
Document type:
Article
Affiliation country:
Japón