Amino acid synthesis deficiencies.

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Annotation Summary

Term Occurence Count Dictionary
leukodystrophy 1 endocrinologydiseases
urea cycle disorder 1 endocrinologydiseases

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leukodystrophy 38229 homozygous missense mutation was found in each family. The disorder was classified as hypomyelinating leukodystrophy -10.Another 18 patients from 11 families with PYCR2 mutations were reported by Zaki et al ([45]), expanding
urea cycle disorder 32729 defect. Plasma ammonia was only mildly increased and decreased after meals in contrast to what happens in urea cycle disorder s.Surprisingly, in the majority of paediatric patients reported, no abnormalities were detected in any

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