Table 2.
Clinical history of patients with hereditary metabolic disorders
| Case 1 | Case 2 | Case 3 | Case 4 | Case 5 | Case 6 | |
|---|---|---|---|---|---|---|
| Underlying disease | MMA | MMA | PPA | PPA | FAO | Hyperornithinemia |
| Age/Sex | 20 y/M | 15 y/M | 14 y/M | 10 y/M | 15 y/M | 35 y/M |
| Birth history | 37 wks, 2.7 kg, C/sec | GA 37 wks, 2.47 kg, C/sec | GA 36 wks, 3.2 kg, C/sec | Full term, 3.7 kg, NSVD | Full term, NSVD | Full term, 3.73 kg, NSVD |
| Age of diagnosis | Perinatal period | Perinatal period | Perinatal period | Perinatal period | 40 m | 7 y |
| NH3 (μg/dL) | 500 | > 1000 | 400 | 1200 | 300 | Normal |
| Management |
Special formula (Propimex) Low-protein diet L-carnitine supplement |
Low-protein diet Special formula (MPA) |
Freq. feeding Raw corn starch |
Insulin Low-protein diet |
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