From: Suggested guidelines for the diagnosis and management of urea cycle disorders
Acute presentation | Chronic presentation |
---|---|
· Altered level of consciousness (from somnolence and lethargy to coma) mimicking encephalitis or drug intoxication | · Confusion, lethargy, dizziness |
· Migraine-like headaches, tremor, ataxia, dysarthria | |
· Acute encephalopathy (see below) | · Asterixis (in adults) |
· Seizures (generally not isolated but along with an altered level of consciousness) | · Learning disabilities, neurodevelopmental delay, mental retardation |
· Ataxia (generally associated with altered consciousness level) | · Chorea, cerebral palsy |
· Stroke-like episodes | · Protracted cortical visual loss |
· Transient visual loss | · Progressive spastic diplegia or quadriplegia (described in ARG1D and HHH syndrome) |
· Vomiting and progressive poor appetite | · Protein aversion, self-selected low-protein diet |
· Liver failure | · Abdominal pain, vomiting |
· Multiorgan failure | · Failure to thrive |
· Peripheral circulatory failure | · Hepatomegaly, elevated liver enzymes |
· “Post-partum psychosis” | · Psychiatric symptoms: hyperactivity, mood alteration, behavioural changes, aggressiveness |
· Psychiatric symptoms (hallucinations, paranoia, mania, emotional or personality changes) | · Self-injurious behaviour |
· Autism-like symptoms | |
In neonates: | · Fragile hair (typical for ASLD) |
· sepsis-like picture, temperature instability · respiratory distress, hyperventilation | · Dermatitis |
· Specific neuropsychological phenotype in heterozygous OTC females | |
· Episodic character of signs and symptoms | |
Potential triggers of hyperammonemic crises in UCD patients | |
· Infections | |
· Fever | |
· Vomiting | |
· Gastrointestinal or internal bleeding | |
· Decreased energy or protein intake (e.g. fasting pre surgery, major weight loss in neonates) | |
· Catabolism and involution of the uterus during the postpartum period (mostly OTC females) | |
· Chemotherapy, high-dose glucocorticoids | |
· Prolonged or intense physical exercise | |
· Surgery under general anesthesia | |
· Unusual protein load (e.g. a barbecue, parenteral nutrition) | |
· Drugs: Mainly valproate and L-asparaginase/pegaspargase. Topiramate, carbamazepine, phenobarbitone, phenytoine, primidone, furosemide, hydrochlorothiazide and salicylates have also been associated with hyperammonemic decompensation. |