Therapy Areas

Urea Cycle Disorders

 

UCDs are caused by a deficiency of one of the enzymes in the urea cycle which is responsible for the removal of ammonia, a potent neurotoxin, from the body. The urea cycle involves a series of biochemical steps in which nitrogen, a waste product of protein metabolism, is removed from the blood and converted to urea which is excreted in the urine. In UCDs, the nitrogen removal is blocked and it accumulates in the form of ammonia. Left untreated, UCDs can cause dangerously increased levels of ammonia in the bloodstream (hyperammonemia) resulting in brain damage, coma and, if untreated, death.

The current treatment of urea cycle disorders consists of dietary management to limit ammonia production (with an emphasis on protein restriction and amino acid supplementation) in conjunction with medications and/or supplements which provide alternative pathways for the removal of ammonia from the bloodstream. Patients suffering from this very serious inborn error of metabolism are at risk of neurological damage due to a metabolic imbalance or decompensation if they fail to take their medication in large doses every day.

 

 

Urinary Tract Infections

 

A urinary tract infection (UTI) (also known as acute cystitis or bladder infection) is an infection that affects part of the urinary tract. When it affects the lower urinary tract it is known as a simple cystitis (a bladder infection) and when it affects the upper urinary tract it is known as pyelonephritis (a kidney infection). Symptoms from a lower urinary tract include painful urination and either frequent urination or urge to urinate (or both), while those of pyelonephritis include fever and flank pain in addition to the symptoms of a lower UTI. In the elderly and the very young, symptoms may be vague or non specific. The main causal agent of both types is Escherichia coli, however other bacteria, viruses or fungi may rarely be the cause.

 

Urinary tract infections occur more commonly in women than men, with half of women having at least one infection at some point in their lives. Recurrences are common. Risk factors include female anatomy, sexual intercourse and family history. Pyelonephritis, if it occurs, usually follows a bladder infection but may also result from a blood borne infection. Diagnosis in young healthy women can be based on symptoms alone. In those with vague symptoms, diagnosis can be difficult because bacteria may be present without there being an infection. In complicated cases or if treatment has failed, a urine culture may be useful. In those with frequent infections, low dose antibiotics may be taken as a preventative measure.

 

In uncomplicated cases, urinary tract infections are easily treated with a short course of antibiotics, although resistance to many of the antibiotics used to treat this condition is increasing. In complicated cases, longer course or intravenous antibiotics may be needed, and if symptoms have not improved in two or three days, further diagnostic testing is needed. In women, urinary tract infections are the most common form of bacterial infection with 10% developing urinary tract infections yearly.