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Complications of protein toxicity and other metabolic disorders related to chronic kidney failure include atherosclerosis, anemia, malnutrition, and hyperparathyroidism Urea Cycle Disorders

Urea cycle disorders are a result of defective transporters or enzymes that are crucial in the breakdown of amino acids in the urea cycle, which allows protein metabolites like ammonia to build up in the bloodstream. If left untreated, ammonia levels in the blood can reach toxic levels, causing central nervous system (CNS) disorders like seizures, confusion, cerebral edema, and coordination problems.

Epidemiology

The prevalence of protein toxicity cannot be accurately quantified as there are numerous etiologies from which protein toxicity can arise.

Most people have protein toxicity as a result of chronic kidney disease (CKD) or end-stage renal disease (ESRD). The prevalence of CKD (all stages) from 1988 to 2016 in the U.S. has remained relatively consistent at about 14.2%. The prevalence of people who have received treatment for ESRD has increased to about 2,284 people per 1 million in 2018, up from 1927 people per 1 million in 2007. Prevalence of treated ESRD increases with age, is more prevalent in males than in females, and is higher in Native Hawaiians and Pacific Islanders over any other racial group. However, the prevalence of protein toxicity specifically is difficult to quantify as people who have diseases that cause protein metabolites to accumulate typically initiate hemodialysis before they become symptomatic.

Urea cycle disorders also cause toxic buildup of protein metabolites, namely ammonia. As of 2013, in the U.S., the incidence of urea cycle disorders has been estimated to be 1 case in every 31,000 births, resulting in about 113 new cases annually.

RCT:

Proteinuria is a CKD-related nontraditional risk factor

Special Populations

Neonates

Protein toxicity, specifically ammonia buildup, can affect preterm newborns with serious defects in the urea cycle enzymes with almost no physical manifestations at birth. Clinical symptoms can manifest within a few days of birth, causing extreme illness and intellectual disability or death, if left untreated. Hyperammonemia in newborns can be diagnosed with visual cues like sepsis-like presentation, hyperventilation, fluctuating body temperature, and respiratory distress; blood panels can also be used to form differential diagnoses between hyperammonemia caused by urea cycle disorders and other disorders.

Neurodegenerative diseases

People who have neurodegenerative diseases like Huntington's disease, dementia, Parkinson's disease, and amyotrophic lateral sclerosis (ALS), also often show symptoms of protein toxicity. Cellular deficits and genetic mutations caused by these neurodegenerative diseases can pathologically alter gene transcription, negatively affecting protein metabolism.