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. 2008 Aug 20;17(1):71–79. doi: 10.1038/ejhg.2008.145

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