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

More general terms

• inborn error of metabolism

Database

• OMIM: https://mirror.omim.org/entry/207900