Silico analysis of a novel mutation c.550delT in a Chinese patient with maple syrup urine disease

Abstract

Twelve days after birth, the child was admitted to hospital because of "poor response, lethargy, and poor appetite for 6 days" and developed into coma immediately. The ventilator is required. The urine had significant maple syrup odor. After different diagnosis, she was diagnosed with classical maple syrup urine disease.

Keywords: BCKDHB gene; maple syrup urine disease; neonate; silico analysis.

Figure 1

Identification of the BCKDHB gene mutations in our study. A‐C, A homozygote father, a heterozygous c.550delT mutation in the patient's mother, and their heterozygote child. D‐F, A heterozygote father (G/A), a homozygote mother (G/G), and their heterozygote child with a genetic mutation at the same site (G/A)

Figure 2

Structure diagram of BCKD E1β protein. A, demonstrates the secondary structure of E1β protein as well as K⁺ ion‐binding domain from PDB database. The Ser184 (red arrow) residue had been labeled. B, represents the domain annotation of E1β protein, including ThDP‐binding domain (red, residues 14‐204) and transketolase C‐terminal domain (pink, residues 205‐342)