Abstract: Objective
To investigate the clinical characteristics, diagnosis and treatment of maple syrup urine disease of DBT gene mutation type in children.
Methods
The clinical manifestations, genotype, diagnosis and treatment of a child genetically diagnosed with maple syrup urine disease were analyzed retrospectively.
Results
Being male, 11 days, the child mainly showed anorexia and his urine had a smell similar to maple sugar. The blood tandem mass spectrometry, urine gas chromatography and head MRI showed the charges consistent with the related changes of maple syrup urine disease. Gene analysis showed that his parents were of the heterozygous mutation of c.1132C>T(p.378X), and the child was of the homozygous mutation of c.1132C>T(p.378X). Special formula milk powder and vitamin B1 were given in time and he became better.
Conclusion
Maple syrup urine disease of DBT gene mutation type in children is characterized by anorexia and special smell in urine. Blood tandem mass spectrometry, urinary organic acid, head MRI and gene analysis are helpful to make a definite diagnosis. The treatment with special formula milk powder and vitamin B1 can improve prognosis.

Key words: Maple syrup urine disease, DBT gene, Vitamin B1, Children