H SYNDROME; HYPERORNITHINEMIA - HYPERAMMONEMIA - HOMOCITRULLINURIA SYNDROME

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HHH SYNDROME IS A DEFECT OF UREA CYCLE METABOLISM INHERITED AS AN AUTOSOMAL RECESSIVE DISORDER. IT MAY BE PRESENT AT BIRTH, DURING CHILDHOOD OR EVEN ADULTHOOD. IT IS CHARACTERIZED BY LETHARGY, POOR FEEDING, VOMITING, ENCEPHALOPATHY AND LIVER DYSFUNCTION.

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15 ML (10 ML MIN.) ALIQUOT OF RANDOM URINE IN A STERILE SCREW CAPPED CONTAINER. NO PRESERVATIVE REQUIRED. SHIP REFRIGERATED OR FROZEN. GIVE BRIEF CLINICAL HISTORY.

LC-MS/MS, GC-MS

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GIVE BRIEF CLINICAL HISTORY.

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