Mitochondrial acetoacetyl-CoA thiolase deficiency: basal ganglia impairment may occur independently of ketoacidosis.

Paquay, Stéphanie

Mitochondrial acetoacetyl-CoA thiolase deficiency: basal ganglia impairment may occur independently of ketoacidosis. [electronic resource] - Journal of inherited metabolic disease 05 2017 - 415-422 p. digital

Publication Type: Journal Article

1573-2665

10.1007/s10545-017-0021-y doi


Acetyl-CoA C-Acetyltransferase--deficiency
Acetyl-CoA C-Acyltransferase--deficiency
Adolescent
Adult
Amino Acid Metabolism, Inborn Errors--metabolism
Basal Ganglia--metabolism
Child
Child, Preschool
Female
Humans
Infant
Infant, Newborn
Isoleucine--metabolism
Ketone Bodies--metabolism
Ketosis--metabolism
Male
Mitochondria--metabolism
Neonatal Screening--methods
Retrospective Studies
Young Adult