A case report of β-ketothiolase deficiency / 中华实用儿科临床杂志

ABSTRACT

The clinical data of a child diagnosed with β-ketothiolase deficiency in Children′s Hospital of Chongqing Medical University in September 2018 were reviewed, and nutritional intervention and follow-up were carried out.The male child was 1 year and 4 months old, and he had clinical manifestations, including vomiting, diarrhea, mental depression and repeated metabolic acid poisoning.Gene detection heterozygous variation of ACAT1 gene c. 401T>C (p.M134T) and c. 481T > C (p.Y161H). This study was mainly aimed at children with β-ketothiolase deficiency for nutritional treatment of individualized nutrition therapy, suggests that energy supply should be guaranteed and protein and fat intake should be limited in acute stage, and protein and fat intake should be increased gradually in remission stage, which can not only ensure growth and development, but also reduce the occurrence of metabolic crisis.