A number sign (#) is used with this entry because of evidence that autosomal recessive primary hypertrophic osteoathropathy-1 (PHOAR1) is caused by homozygous mutation in the HPGD gene (601688) on chromosome 4q34. Isolated digital clubbing (119900) as well as cranioosteoarthropathy can also be caused by homozygous mutation in the HPGD gene. Description Primary hypertrophic osteoarthropathy is a familial disorder characterized by digital clubbing and osteoarthropathy, with variable features of pachydermia, delayed closure of the fontanels, and congenital heart disease. Secondary hypertrophic osteoarthropathy, or pulmonary hypertrophic osteoarthropathy, is a different disorder characterized by digital clubbing secondary to acquired diseases, most commonly intrathoracic neoplasm (Uppal et al., 2008). Touraine et al. (1935) recognized pachydermoperiostosis as a familial disorder with 3 clinical presentations or forms: a complete form characterized by periostosis and pachydermia; an incomplete form with bone changes but without pachydermia; and a 'forme fruste' with pachydermia and minimal skeletal changes.

A number sign (#) is used with this entry because of evidence that at least some cases of the Currarino syndrome are caused by heterozygous mutation in the HLXB9 homeobox gene (MNX1; 142994) on chromosome 7q36. Clinical Features The Currarino triad involves the association of partial sacral agenesis with intact first sacral vertebra ('sickle-shaped sacrum'), a presacral mass, and anorectal malformation (Currarino et al., 1981). The specific sacral anomaly is distinct to this syndrome. Of 10 affected members in the family reported by O'Riordain et al. (1991), only 4 were symptomatic, 3 of these had the full Currarino syndrome (sacral agenesis, presacral mass, and anorectal malformation), and the fourth had an anterior meningocele with no anorectal problems. All 10 had evidence of partial sacral agenesis on x-ray. Constipation and perianal sepsis are common complaints. Ascending infection resulting in E. coli bacterial meningitis has been reported.

Currarino syndrome (CS) is a rare congenital disease characterized by the triad of anorectal malformations (ARMs) (usually anal stenosis), presacral mass (commonly anterior sacral meningocele (ASM) or teratoma) and sacral anomalies (i.e. total or partial agenesis of the sacrum and coccyx or deformity of the sacral vertebrae).

Currarino triad or syndrome is an autosomal dominant hereditary condition which is characterized by the triad of sacral agenesis abnormalities (abnormally developed lower spine), anorectal malformation (most commonly in the form of anorectal stenosis ) and presacral mass consisting of a teratoma , anterior sacral meningocele or both. However only 1 out of 5 cases of Currarino triad has all three abnormalities present. Currarino triad is considered a spectrum disorder with a wide variation in severity. Up to one-third of the patients are asymptomatic and may only be diagnosed during adulthood only on X-rays and ultrasound examinations that are performed for different reasons. Currarino triad is most often caused by mutations in the MNX1 gene . Treatment depends on the type and severity of abnormalities present, but may involve surgery.

Cranio-osteoarthropathy (COA) is a form of primary hypertrophic osteoarthropathy (see this term) characterized by delayed closure of the cranial sutures and fontanels, digital clubbing, arthropathy, and periostosis. Epidemiology Prevalence is unknown. To date, about 30 cases have been reported. Clinical description COA presents in childhood with features of primary hypertrophic osteoarthropathy including digital clubbing and clinodactyly of the fingers, eczematous skin eruption, arthropathy and periosteal new bone formation as well as poor neurocranium ossification with delayed closure of the cranial sutures and fontanels, resulting in wide fontanels, and an increased number of wormian bones. COA may also be associated with congenital heart disease. Etiology It is caused by mutations in the HPGD gene (4q33-q34) and is inherited as an autosomal recessive trait; however, heterozygous carriers can have a mild phenotype.

A number sign (#) is used with this entry because pentosuria (PNTSU) is caused by homozygous or compound heterozygous mutation in the DCXR gene (608347) on chromosome 17q25. Description Essential pentosuria is an inborn error of metabolism in which 1 to 4 gm of the pentose L-xylulose is excreted in the urine each day. It is a benign condition that occurs principally in individuals of Ashkenazi Jewish descent (summary by Hiatt, 2001). Biochemical Features Levene and La Forge (1914) showed that the excreted pentose in pentosuria is L-xylulose. By direct biochemical means applied to erythrocytes, Wang and Van Eys (1970) demonstrated that the basic fault in pentosuria concerns NADP-linked xylitol dehydrogenase, the enzyme that catalyzes the conversion of L-xylulose to xylitol.

Pentosuria Xylulose Specialty Endocrinology Pentosuria is a condition where the sugar xylitol , [1] a pentose , presents in the urine in unusually high concentrations. It was characterized as an inborn error of carbohydrate metabolism in 1908. [2] It is associated with a deficiency of L-xylulose reductase , necessary for xylitol metabolism. [1] [3] L- Xylulose is a reducing sugar , so it may give false diagnosis of diabetes, as it is found in high concentrations in urine. However glucose metabolism is normal in people with pentosuria, and they are not diabetic . [4] Patients of pentosuria have a low concentration of the sugar d-xyloketose. [5] Using, Phenyl pentosazone crystals, phloroglucin reaction, and absorption spectrum, pentose can be traced back as the reducing substance in urine, with those that have pentosuria. [6] Research has shown that pentosuria appears in 3 forms. The most widely studied is essential pentosuria, where a couple of grams of L-xylusol are released into a person's system daily. [7] L-xylulose reductase , contained in red blood cells, is composed of both a major and minor isozyme . [8] For those diagnosed with essential pentosuria, the major isozyme appears to be the same as the minor one. [8] Alimentary pentosuria can be acquired through fruits high in pentose. [7] Finally, drug-induced pentosuria can be developed by those exposed to morphine, fevers, allergies, and some hormones. [7] Those diagnosed with Pentosuria are predominantly of Jewish root. [1] However, it is a harmless defect, and no cure is needed. [9] References [ edit ] ^ a b c "pentosuria" . Encyclopædia Britannica . Retrieved March 26, 2013 . ^ Scriver CR (October 2008).

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. Frequency Essential pentosuria occurs almost exclusively in individuals with Ashkenazi Jewish ancestry. Approximately 1 in 3,300 people in this population are affected. Causes Essential pentosuria is caused by mutations in the DCXR gene.