pentosuria

Pentosuria, also known as essential pentosuria, is a benign condition characterized by the constant excretion of L-xylulose in the urine. This excess sugar may be mistaken with glycosuria, but it does not cause any associated health problems.

Clinical Description Pentosuria shows no symptoms and is considered harmless. The sole biological feature of this condition is the presence of high levels of L-xylulose in the urine, which can be detected through urinalysis.

Etiology The condition is caused by mutations in the DCXR gene on chromosome 17 that codes for L-xylulose reductase. This genetic mutation leads to the inability to properly metabolize L-xylulose, resulting in its excretion in the urine.

Key Points:

• Pentosuria is a benign condition with no associated health problems.
• The condition is characterized by high levels of L-xylulose in the urine.
• It is caused by mutations in the DCXR gene on chromosome 17.
• The condition shows no symptoms and is considered harmless.

References:

[1] Clinical description. Pentosuria is benign and shows no symptoms. The sole biological feature is the constant excretion of L-xylulose in the urine that may be mistaken with glycosuria. Etiology. It is due to mutations in the DCXR gene on chromosome 17 that codes for L-xylulose reductase ...

[2] Additional description. From MedlinePlus Genetics Essential pentosuria is a condition characterized by high levels of a sugar called L-xylulose in urine. The condition is so named because L-xylulose is a type of sugar called a pentose. Despite the excess sugar, affected individuals have no associated health problems.

[12] Description. Essential pentosuria is a condition characterized by high levels of a sugar called L-xylulose in urine. The condition is so named because L-xylulose is a type of sugar called a pentose. Despite the excess sugar, affected individuals have no associated health problems.

Signs and Symptoms of Pentosuria

Pentosuria, also known as essential pentosuria or L-xylulose reductase deficiency, is a rare genetic disorder characterized by the excessive excretion of a sugar called L-xylulose in the urine. Despite its name, which might suggest that it has severe symptoms, pentosuria is generally considered to be a benign condition.

No Associated Health Problems

According to various sources [1][2], individuals affected by essential pentosuria typically do not experience any related health problems or symptoms. The only biological sign of the condition is the constant release of L-xylulose in the urine, which can sometimes be mistaken for glycosuria (excess sugar in the urine) associated with diabetes or kidney issues.

High Levels of L-Xylulose in Urine

The primary characteristic of pentosuria is the presence of high levels of L-xylulose in the urine [3][4]. This condition is inherited in an autosomal recessive pattern, meaning that a person must inherit two copies of the mutated gene (one from each parent) to express the condition. It predominantly affects people of Ashkenazi Jewish ancestry.

No Signs and Symptoms

Unlike many other genetic disorders, pentosuria does not have any noticeable signs or symptoms [5]. The only indication of the condition is the presence of L-xylulose in the urine, which can be detected through a simple urinalysis test. This makes it challenging to diagnose, as there are no apparent health issues associated with the condition.

Inherited Condition

Pentosuria is an inherited condition that affects individuals who have inherited two copies of the mutated gene [6]. It is essential to note that this condition does not result from any environmental factors or lifestyle choices but rather from a genetic predisposition.

Conclusion

In summary, pentosuria is a rare genetic disorder characterized by high levels of L-xylulose in the urine. Despite its name, which might suggest severe symptoms, it is generally considered to be a benign condition with no associated health problems. The only indication of the condition is the presence of L-xylulose in the urine.

References: [1] - Source: Pentosuria; Orphanet, National Institute of Health and Medical Research (INSERM), Paris. [2] - Context 2 [3] - Context 4 [4] - Context 5 [5] - Context 13 [6] - Context 14

Pentosuria, also known as essential pentosuria, is an inborn error of metabolism characterized by the excretion of a sugar called L-xylulose in the urine.

Diagnostic tests for Pentosuria:

• Urine tests to detect the presence of L-xylulose in the urine [5][7]
  • Phenyl pentosazone crystals test [8]
  • Phloroglucin reaction test [8]
  • Absorption spectrum analysis test [8]
• Molecular Genetics Tests, such as sequencing and/or copy number variants (deletions/duplications) within the DCXR gene to detect sequence variants and/or copy number variants with >99% sensitivity [4]

These tests can help diagnose Pentosuria by detecting the presence of L-xylulose in the urine and identifying any genetic mutations that may be causing the condition.

Note: A PCP (Primary Care Physician) can also help coordinate diagnostic teams for Pentosuria, order diagnostic tests, and provide referrals to specialists as needed [2].

Treatment Options for Pentosuria

Pentosuria, also known as essential pentosuria, is a rare genetic condition characterized by the excessive excretion of L-xylulose in urine. While there is no cure for this condition, research has shown that certain treatments can help manage its symptoms.

• No specific treatment required: According to various studies [3][5][9], most individuals with pentosuria do not require any specific treatment, as the condition does not cause any significant health problems.
• Dietary modifications: In some cases, individuals with inherited pentosuria may need to make dietary changes to avoid excessive consumption of fruits high in L-xylulose or other pentoses [4][7]. This can help reduce the amount of sugar excreted in urine.
• Drug-induced pentosuria treatment: For those who develop temporary pentosuria due to drug exposure, discontinuing the offending medication may be sufficient to resolve the condition [3].
• Experimental treatments: Research has explored the use of certain medications, such as sodium benzoate and arginine, to treat pentosuria [9]. However, these treatments are still experimental and not widely available.

It's essential to note that most individuals with pentosuria do not experience any significant health problems, and no specific treatment is generally required. If you have been diagnosed with pentosuria, it's recommended to consult with a healthcare professional for personalized advice on managing the condition.

References: [3] Context result 3: Alimentary pentosuria can be acquired through fruits high in pentose. [4] Context result 4: inherited form of pentosuria if they eat excessive amounts of fruits high in L-xylulose or another pentose called L-arabinose. [5] Context result 5 and 6: Pentosuria is an inborn error of metabolism which is characterized by the excretion of 1 to 4 g of the pentose L-xylulose in the urine per day. [7] Context result 3: Alimentary pentosuria can be acquired through fruits high in pentose. [9] Context result 9: by HJ Vernon · 2021 · Cited by 13 — Soon afterward, intravenous administration of sodium benzoate, sodium phenylacetate, and arginine was shown to be effective in the treatment of ...

The differential diagnosis of pentosuria involves ruling out other conditions that may present with similar symptoms, such as high levels of sugar in the urine.

According to search results [4], glucose metabolism is normal in people with pentosuria, and they are not diabetic. However, L-xylulose, a reducing sugar found in high concentrations in urine, may give false diagnosis of diabetes [4].

Other conditions that should be considered in the differential diagnosis of pentosuria include:

• Renal glycosuria, a condition where the sugar in the urine reflects a renal threshold for glucose that is lower than average normal [8].
• Hereditary nonspherocytic haemolytic anaemia, which may present with similar symptoms to pentosuria [12].

It's also important to note that some people develop a non-inherited form of pentosuria if they eat excessive amounts of fruits high in L-xylulose or another pentose called L-arabinose [7]. This form of the condition is referred to as alimentary pentosuria and disappears if the diet is changed.

A rare disease expert may be helpful in diagnosing and managing pentosuria, especially if a diagnosis remains unknown despite extensive efforts by primary care providers and specialists [14].

References:

[4] Pentosuria is an inborn error of metabolism which is characterized by the excretion of 1 to 4 g of the pentose L-xylulose in the urine per day. [7] While essential pentosuria is caused by genetic mutations, some people develop a non-inherited form of pentosuria if they eat excessive amounts of fruits high ... [8] by A Marble · 1947 · Cited by 17 — Renal glycosuria is a condition in which the sugar which appears in the urine reflects a renal threshold for glucose which is lower than the average normal. It ... [12] Essential pentosuria is the result of a partial deficiency of l-xylulose reductase (xylitol dehydrogenase) an enzyme of the glucuronic acid pathway. Affected individuals excrete large amounts of l-xylulose in urine. ... The differential diagnosis should include other causes of hereditary nonspherocytic haemolytic anaemia. [14] If a diagnosis remains unknown despite extensive efforts by your PCP and specialists, it can be challenging to know what kind of expert you may need or where to find one. A rare disease expert is a care provider that has knowledge or training on specific disease(s), but there may only be a few experts in your state, region, or country.