Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0036690 (
sepsis
)
59,461
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Methylacetoacetyl-coenzyme A thiolase (MAT) deficiency is an autosomal recessive disease caused by a defect of
mitochondrial acetoacetyl-CoA thiolase
(T2). There is an error of isoleucine catabolism and ketone body utilization due to mutations in the
acetyl-Coenzyme A acetyltransferase 1
(
ACAT1
) gene. We report a case of a 14 months old Sabahan boy with beta deficiency who presented with severe
sepsis
and ketoacidosis who subsequently recovered.
...
PMID:Beta-ketothiolase deficiency in a Malaysian infant. 3107 30
