… This is the first Iranian 3-oxothiolase deficiency case report as searched in the literature. …
marriages in Iran, physicians should consider the 3-oxothiolase deficiency in the differential …

… The first report of our country was a 6 month-old Iranian boy presented with clinical … deficiency.
Genetic assay was not reported for this case (16). We do not have clear incidence in Iran, …

… In Iran, the consanguinity rates are estimated to be 30 to 39%… parental consanguineous
marriages in Iran. To identify the … province patients (North East Iran) with confirmed diagnoses …

… acetoacetyl-CoA thiolase) deficiency is a genetic disorder … We report two cases of beta-ketothiolase
deficiency presenting with acute ketoacidosis and “metabolic stroke.” The first patient …

… reports in China of this disorder were based on the genomic level.This paper reports an atypical
case of T2 deficiency… in beta-ketothiolase deficiency: the first report from India. Brain Dev …

… We report a case of beta-ketothiolase deficiency in a 1-y-old Chinese boy who presented
with repeated vomiting, impaired consciousness and severe ketoacidosis. NMR urinalysis …

… deficiency, and in some instances panhypopituitarism but we report a 17-year-old iranian …
This is the first Iranian 3-oxothiolase deficiency case report as searched in the literature. …

… Discussion: This is the first Iranian 3-OXOTHIOLASE DEFICIENCY case report as searched
… marriages in Iran, physicians should consider the 3-OXOTHIOLASE DEFICIENCY in the …

… Over the past several years, ACAT1 deficiency as an autosomal … Patients diagnosed with
ACAT1 deficiency show clinical … It is therefore suggested that deficiency in ACAT1 activity …