Hyperammonemia

Overview

High levels of ammonia in the blood (typical reference range, 11-35 umol/L). This is rare, except in the presence of liver failure.

Causes

Overproduction of ammonia

Protein load

• gastrointestinal hemorrhage
• gastric bypass
• multiple myeloma
• allogeneic stem cell transplantation
• parenteral nutrition

Increased catabolism

• starvation
• seizures
• vigorous exercise
• burns
• corticosteroids

Urinary

• urease-producing infection (e.g. Proteus and Klebsiella spp.)
• congenital ureteric obstruction associated with infection

Reduced elimination

Liver failure (acute or chronic)

Drugs and toxins

• valproate
• carbamazepine
• salicylates
• rifampicin
• hepatotoxic drugs (e.g. paracetamol, halothane) and toxins (e.g. mushrooms)

Metabolic errors

• urea cycle disorders
• organic acidemias
• fatty acid oxidation disorders

CCC Differential Diagnosis Series
NEURO	Anosmia, Ataxia, Blepharospasm, Bulbar and Pseudobulbar palsy, Central Pontine Myelinosis, Cerebellar Disease, Chorea, Cranial nerve lesions, Dementia, Dystonia, Exophthalmos, Eye trauma, Facial twitches, Fixed dilated pupil, Horner syndrome, Loss of vision, Meningism, Movement disorders, Optic disc abnormality, Parkinsonism, Peripheral neuropathy, Radiculopathy, Red eye, Retinal Haemorrhage, Seizures, Sudden severe headache, Tremor, Tunnel vision
RESP	Bronchial breath sounds, Bronchiectasis, High airway pressures, Massive haemoptysis, Sore throat, Tracheal displacement
CVS	Atrial Fibrillation, Bradycardia, Cardiac Failure, Chest Pain, Murmurs, Post-resuscitation syndrome, Pulseless Electrical Activity (PEA), Pulsus Paradoxus, Shock, Supraventricular tachycardia (SVT), Tachycardia, VT and VF, SVC Obstruction
GIT	Abdominal distension, Abdominal mass, Abdominal pain, Asterixis, Dysphagia, Hepatomegaly, Hepatosplenomegaly, Large bowel obstruction, Liver palpation abnormalities, Lower GI haemorrhage, Malabsorption, Medical causes of abdominal pain, Rectal mass, Small bowel obstruction, Upper GI Haemorrhage
GUT	Genital ulcers, Groin lump, Scrotal mass, Urine colour, Urine Odour, Urine transparency,
MSK	Arthritis, Shoulder pain, Wasting of the small muscles of the hand
DERM	Palmar erythema, Serious skin signs in sick patients, Thickened Tethered Skin, Leg ulcers, Skin Tumour, Acanthosis Nigricans
ENDO	Diabetes Insipidus, Diffuse Goitre, Gynaecomastia, Hirsutism, Hypoglycaemia, SIADH, Weight Loss
HAEM	Splenomegaly
PAEDS	Floppy infant
MISC	Anaphylaxis, Autoimmune associated diseases, Clubbing, Parotid Swelling, Splinter haemorrhages, Toxic agents and abnormal vitals, Toxicological causes of cardiac arrest
IMAGING	CHEST: Atelectasis, Hilar adenopathy, Hilar enlargement on CXR, Honeycomb lung, Increased interstitial markings, Mediastinal widening on mobile CXR, Pulmonary fibrosis, Pseudoinfiltrates on CXR, Pulmonary opacities on CXR, ABDO: Gas on abdominal X-ray, Kidney mass, BRAIN: Intracranial calcification, Intracranial structures with contrast, Ventriculomegaly, OTHER: Pseudofracture on X-Ray,
LABS	LOW: Anaemia, Hypocalcaemia, hypochloraemia, Hypomagnesaemia,  HIGH: Bilirubin and Jaundice, Hyperammonaemia, Hypercalcaemia, Hyperchloraemia, Hyperkalaemia, Hypermagnesaemia,  ACID BASE: Acid base disorders, Resp. acidosis, Resp. alkalosis, Creatinine, CRP, Dipstick Urinalysis, Laboratory Urinalysis, Liver function tests (LFTs), Pleural fluid analysis, Urea, Urea Creatinine Ratio, Uric acid, Urinalysis, Urine Electrolytes

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