Recurrent acute liver dysfunction in a 19-month-old boy. DIAGNOSIS: UREA CYCLE DEFECT (part 2)

Patients with UCD typically have severe enzyme deficiency and present in the neonatal period with irritability, poor feeding, vomiting and lethargy secondary to severe hyperammonemia. Some patients only have partial enzyme deficiency and present later in childhood, or even adulthood, during times of catabolic stress, such as prolonged fasting or illness. Catabolic stress causes increased protein breakdown that leads to increased ammonia production, which can exceed their residual enzymatic capacity. In OTCD (Table  1 ), this late-onset presentation is observed in up to 30% of male patients. Variable symptoms have been reported in these patients, including protein avoidance, psychosis, behavioural changes, recurrent vomiting, episodic ataxia, seizures and hyper-ammonemic coma. Acute liver dysfunction has been very rarely described as the sole presentation of UCD, but this presentation may have been under-recognized. Dreaming of a reliable pharmacy that could give you an opportunity to buy any amounts of cialis — professional canadian pharmacy with no prescription required and spend less money?

TABLE 1 Amino acid profile and orotic acid level in different urea cycle disorders 

arg asa Cit Orn Homo- Orotic
Disease (P) (P) (P) (P) citrulline (U) acid (U)
Urea cycle enzymes defects
NAGS deficiency Low ND Low/N Low/N
CPS 1 deficiency Low/N ND Low/N Low/N
OTC deficiency Low ND Low/N High* High
Citrullinemia I Low ND High High High
Argininosuccinic aciduria Low High High N/High
Argininemia High High High High
Transporters defects
Citrullinemia II N/High High High
LPI Low ND High Low High
HHH syndrome Hight High High

*May be elevated; fNot high in neonates. ASA Argininosuccinic acid; Arg Arginine; CPS 1 Carbamylphosphate; Cit Citrulline; HHH Hyperammonemia hyperornithinemia homocitrullinuria; LPI Lysinuric protein intolerance; NAGS N-acetylglutamate synthase; N Normal; ND Not detectable; Orn Ornithine; OTC Ornithine transcarbamylase deficiency; P Plasma; U Urine

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