Research Article
Clinical and Molecular Spectrum of Glutamate Dehydrogenase Gene Defects in 26 Chinese Congenital Hyperinsulinemia Patients
Table 1
Clinical and genetic characteristics of 26 GDH-HI patients.
| | Patient no. | Sex | Age at presentation | First clinical sign | Age at diagnosis | Birth weight (kg) | Median NH3 (μmol/L) | Diazoxide (mg/kg/d) | Current age (y) | Psychomotor retardation | Epilepsy | Mutation | | Initial | At last visit | Before treatment | At last visit | Before treatment | At last visit | Nucleotide | Amino acid change |
| | 1 | M | 4 m | Seizure | 10 m | 3.1 | 80 | 10 | 2.5 | 10 | + | + | + | + | c.820C>T | p.R221C | | 2 | F | 1 y | Seizure | 1 y and 6 m | 3.7 | 56 | 7.5 | 5 | 3 | − | − | − | − | c.820C>T | p.R221C | | 3 | M | 1 y | Seizure | 8 y | 4.5 | 84 | 2 | 0 | 10 | + | + | + | + | c.820C>T | p.R221C | | 4 | F | 7 m | Seizure | 2 m | 3.3 | 91 | 6 | 4 | 2 | − | − | − | − | c.820C>T | p.R221C | | 5 | M | 1 y | Seizure | 2 y and 1 m | 3.5 | 98 | 5 | 5 | 2.6 | + | + | − | − | c.943C>T | p.H262Y | | 6 | F | 3 y | Seizure | 11 y | 3.8 | 103 | 5 | 5 | 12 | + | + | + | + | c.965G>A | p.R269H | | 7 | M | 1 y | Unconsciousness | 3 y | 3.0 | 108 | 7.5 | 2.5 | 12 | + | + | − | + | c.965G>A | p.R269H | | 8 | M | 1 y and 2 m | Trembled | 1 y and 6 m | 4.25 | 43 | 10 | 8 | 2.6 | − | − | − | − | c.965G>A | p.R269H | | 9 | F | 1 y | Seizure | 8 y | 3.35 | 88 | 5 | 0 | 13.6 | + | + | + | + | c.965G>A | p.R269H | | 10 | M | 9 m | Seizure | 1 y and 2 m | 3.6 | 37 | 5 | 2.5 | 12 | − | − | − | − | c.965G>A | p.R269H | | 11 | F | 1 y | Seizure | 1 y and 2 m | 3.9 | 100 | 7 | 5 | 6 | − | − | − | − | c.965G>A | p.R269H | | 12 | M | 6 m | Seizure | 7 y | 2.0 | 188 | 5 | 5 | 10 | + | + | + | + | c.1388A>G | p.N410S | | 13 | M | 2 d | Seizure | 6 m | 3.65 | 106 | 5 | 0 | 6 | − | + | − | + | c.1388A>T | p.N410I | | 14 | M | 1 m | Seizure | 2 m | 3.7 | 151 | 10 | 5 | 3 | − | − | − | − | c.1486A>T | p.R443W | | 15 | F | 11 m | Seizure | 1 y and 3 m | 2.6 | 105 | 5 | 0 | 6 | − | + | − | + | c.1493C>T | p.S445L | | 16 | M | 4 m | Seizure | 4 m | 3.2 | 125 | 7 | 2 | 10 | − | − | − | − | c.1493C>T | p.S445L | | 17 | M | 6 m | Seizure | 6 y | 3.8 | 109 | 5 | 5 | 13 | + | + | + | + | c.1493C>T | p.S445L | | 18 | F | 1 y | Seizure | 1 y and 1 m | 3.5 | 90 | 7.5 | 7.5 | 11 | − | − | − | − | c.1493C>T | p.S445L | | 19 | M | 16 d | Seizure | 2 m | 3.3 | 161 | 10 | 7.5 | 2.5 | − | − | − | + | c.1493C>T | p.S445L | | 20 | F | 6 d | Seizure | 1 m | 3.5 | 169 | 5 | 5 | 1.5 | − | − | − | − | c.1493C>T | p.S445L | | 21 | M | 5 m | Seizure | 5 y | 4 | 89 | 5 | 5 | 10 | + | + | + | + | c.1493C>T | p.S445L | | 22 | M | 8 m | Seizure | 8 m | 3.5 | 105 | 7.5 | 7.5 | 1.8 | − | − | − | − | c.1493C>T | p.S445L | | 23 | F | 8 m | Seizure | 5 m | 3.65 | 58 | 5 | 3 | 2 | − | − | − | − | c.1493C>T | p.S445L | | 24 | M | 1 d | Weakness | 4 d | 2.8 | 190 | 12.5 | 10 | 1 | − | − | − | − | c.1495C>A | p.G446C | | 25 | M | 2 m | Seizure | 3 m | 3.2 | 95 | 7.5 | 5 | 3.9 | − | − | − | − | c.1516G>A | p.V453M | | 26 | M | 8 m | Seizure | 1 y and 8 m | 2.8 | 111 | 8 | 5 | 3.6 | − | − | − | − | c.1519G>A | p.H454Y |
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M: male; F: female; m: month; y: year. Normal serum ammonia level range < 74 (μmol/L).
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