Pentosuria

Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD medical weight loss NYC and sleep center NYC

Pentosuria
Structure of L-xylulose
Synonyms	N/A
Pronounce	N/A
Specialty	N/A
Symptoms	Excessive urinary excretion of L-xylulose
Complications	Generally benign, but can be mistaken for diabetes mellitus
Onset	Congenital
Duration	Lifelong
Types	N/A
Causes	Deficiency of the enzyme xylitol dehydrogenase
Risks	Genetic predisposition, particularly in individuals of Ashkenazi Jewish descent
Diagnosis	Urinalysis showing high levels of L-xylulose
Differential diagnosis	Diabetes mellitus, other causes of glycosuria
Prevention	N/A
Treatment	None required
Medication	N/A
Prognosis	Excellent, as the condition is benign
Frequency	Rare
Deaths	N/A

A rare metabolic condition involving the excretion of xylulose in urine

Pentosuria

Pentosuria is a rare metabolic disorder characterized by the excessive excretion of the pentose sugar xylulose in the urine. This condition is often benign and does not typically result in any significant health problems. Pentosuria is most commonly found in individuals of Ashkenazi Jewish descent.

Pathophysiology

Pentosuria is caused by a deficiency in the enzyme xylitol dehydrogenase, which is responsible for the metabolism of xylulose. In individuals with pentosuria, xylulose is not properly metabolized and is instead excreted in the urine. This can lead to a false positive result for glucose in urine tests, as the presence of xylulose can be mistaken for glucose.

Genetics

Pentosuria is inherited in an autosomal recessive pattern. This means that an individual must inherit two copies of the defective gene, one from each parent, to manifest the condition. The gene responsible for pentosuria has been mapped to a specific location on chromosome 2.

Diagnosis

The diagnosis of pentosuria is typically made through a combination of clinical evaluation and laboratory testing. A urinalysis can reveal the presence of pentose sugars, and specific tests can differentiate xylulose from glucose. Genetic testing can confirm the diagnosis by identifying mutations in the gene responsible for the condition.

Management

Since pentosuria is generally a benign condition, no specific treatment is required. Patients are usually advised to inform healthcare providers of their condition to avoid misdiagnosis of diabetes mellitus due to the presence of reducing sugars in the urine.

See also

• Metabolic disorder
• Xylulose
• Autosomal recessive disorder
• Urinalysis