An atypical case of mitochondrial acetoacetyl-CoA thiolase deficiency
- Author:
Chun-Hui Hu
;
Qiao-Qiao Qian
;
Hong-Min Zhu
;
Dan Sun
;
Shu-Hua Wu
;
Ge-fei Wu
;
Jia-Sheng Hu
;
Zhi-Sheng Liu
- Publication Type:Case Reports
- From:Neurology Asia
2017;22(2):165-169
- CountryMalaysia
- Language:English
-
Abstract:
Methylacetoacetyl-CoA thiolase deficiency (T2 deficiency) is a rare congenital and metabolic disease
affecting the ketone body and isoleucine metabolism. The typical symptoms are refractory metabolic
acidosis, in which large amounts of 2-methyl-3-hydroxybutyry1 carnitine, 2-methyl-3-hydroxybutyrate
and tiglylglycine are often detected in the blood and urine. We herein describe an atypical case of T2
deficiency with a high level of 3-hydroxybutyrate and a low level of 2-methyl-3-hydroxybutyrate in
the urine. Such a case was diagnosed by urinary organic analysis in combination with gene mutation
evaluation. Organic acids in the urine were measured using a gas chromatography mass spectrometer
and all exons were sequenced via deep sequencing. Molecular biology analysis confirmed the presence
of a homozygous mutation in the acetyl-CoA acetyltransferase 1 (ACAT1) gene. The patient received a
special diet of deeply hydrolyzed protein milk powder and raw corn starch. She was followed about 6
months. There were no ketoacidotic episodes and hypoglycemia even when she had fever. In conclusion,
patients with atypical features of T2 deficiency should also be investigated early. Gas chromatography
mass spectrometry and next-generation full exome sequencing may be helpful in diagnosis.
- Full text:W020170710346494322094.pdf
