Recurrent ketoacidosis: Is it a ketone metabolism disorder?

INTRODUCTION: Two defects of ketogenesishave been reported in the human so far; mitochondrial 3-hydroxy-3-methyl glutaryl CoAsynthase (Mhs) and 3-hydroxymethyl-3- glutaryl CoAlyase (HL) deficiencies. Defects of ketone utilization (ketolysis) can be the result of enzyme deficiencyof succinyl CoA: 3 oxoacidCoA transferase ( SCOT) or methylacetoacetyl CoA thiolase- beta ketothiolase(MAT). Our aim was to evaluate the clinical and laboratory findings of patients who were diagnosed with ketone metabolism disorders. METHODS: Patients who were diagnosed with ketone metabolism disorderswere examined retrospectively. RESULTS: Four patients had HL deficiency, 3 patients had MAT deficiencyand 2 patients had SCOTdeficiency. The median age of the patients was 5 years (6 months – 15.5 years) and the mean age of first metabolic decompensationwas 7.7 months (22 days - 19 months). A patient with MAT deficiencywas asymptomatic and diagnosed by family screening. Two patients developed severe neurological deficit like spastic tetraparesis. It was seen that decompensationattacks developed after poor feeding, vomiting and infections such as gastroenteritis. DISCUSSION AND CONCLUSION: In the case of unexplained metabolic acidosisattacks, ketone metabolism disordersshould be kept in mind. Acute decompensationmay occur at different ages, clinical severity may be variable. Early diagnosis and appropriate treatment are very important in terms of mortality and morbidity.