Table 1. Clinical features of LPI patients.
Patient no. | 1 | 2 | 3 | 4 | 5 | 6 | 8 | 9 | 10 |
---|---|---|---|---|---|---|---|---|---|
Age | 6 years | 11 years | 2 years | 14 years | 12 years | 13 years | 9 months | 14 months | 15 years |
Sex | M | F | M | M | F | F | F | F | M |
Basic hyperaminoaciduria | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes |
Basic hypoaminoacidaemia | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes |
Developmental delay | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes |
Protein intake aversion | Yes | No | Yes | Yes | Yes | Yes | Yes | Yes | Yes |
Hepatosplenomegaly | Yes (mild) | Yes (mild) | Yes (mild) | Yes | Yes | Yes | No | No | Yes (mild) |
Osteoporosis | Yes | Yes | — | Yes | Yes | — | — | No | Yes |
Hypotony | No | No | Yes | No | No | Yes | Yes | Yes | — |
Anaemia | Yes | No | Yes | Yes | Yes | — | No | No | — |
Mental retardation | — | No | — | — | Yes | Yes | — | No | — |
Pulmonary insufficiency | No | No | — | — | No | Yes | — | — | — |