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arginosuccinicaciduria
Pathology:
- trichorrhexis nodosa microscopically, fluoresces red
Genetics:
- associated with defects in ASL
Clinical manifestations:
- mental retardation
- physical retardation
- liver enlargement
- skin lesions
- dry & brittle hair
- convulsions
- episodic unconsciousness
Laboratory:
- urinalysis demonstrates argininosuccinate
- argininosuccinate lyase measurement
General
inborn error of metabolism
Database Correlations
OMIM 207900
References
OMIM :accession 207900