Two cases of hereditary fructose intolerance

Ananth, N.; Praveenkumar, G. S.; Rao, K. A.; vasanthi,; Kakkilaya, Srinivas B.

doi:10.1007/bf02867372

Cited by 9 publications

(4 citation statements)

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“…Worldwide, common mutations such as p.A149P mutation, which showed a founder effect in studies, have simplified the diagnostic strategy in certain populations (Brooks and Tolan 1993). There is a paucity of literature on HFI and ALDOB gene studies from India, as only few case reports, without mutations, have been reported (Bharadia and Shivpuri 2012;Ananth et al 2003). This is the first report of mutations in the ALDOB gene from India.…”

Section: Discussionmentioning

confidence: 67%

Molecular Diagnosis of Hereditary Fructose Intolerance: Founder Mutation in a Community from India

et al. 2014

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Hereditary fructose intolerance (HFI) is a difficult-to-confirm diagnosis, requiring either invasive liver biopsy-enzyme assay or potentially hazardous fructose challenge test or expensive molecular genetic analysis. Therefore, worldwide there has been a trend towards finding "common mutations" in distinct ethnic groups to simplify the process of diagnosis. The nonspecific presentation of the disease often leads to diagnostic confusion with other metabolic liver disorders such as glycogenoses, galactosemia, and tyrosinemia. This leads to much delay in diagnosis with consequent harm to the patient.We report mutations in the ALDOB gene, from eleven Indian patients, seven of whom belong to the Agarwal community. Six patients from the Agarwal community and two non-Agarwal patients harbored one novel mutation, c.324+1G>A (five homozygous and one heterozygous), in the ALDOB gene. Haplotyping performed in families confirmed a founder effect. The community has been known to harbor founder mutations in other genes such as the MLC1, PANK2, and CAPN3 genes, thus providing another evidence for a founder effect in the community in case of HFI. This may pave the path for a simpler and quicker test at least for this community in India. In addition to the founder mutation, we report four other novel mutations, c.112+1delG, c.380-1G>A, c.677G>A, and c.689delA, and a previously reported mutation, c.1013C>T, in the cohort from India.

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Section: Discussionmentioning

confidence: 67%

Molecular Diagnosis of Hereditary Fructose Intolerance: Founder Mutation in a Community from India

et al. 2014

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“…This results in impaired glycogenolysis and gluconeogenesis and induced hypoglycemia,[ 15 16 ] which can lead to further life-threatening complications such as hepatorenal damage and death. [ 9 17 18 ] Further, a series of cases of fatalities due to intravenous fructose infusion has been reported in some European hospitals. [ 5 13 14 ] The cause of severe hepatic dysfunction remains unknown but may be a manifestation of focal cytoplasmic degeneration and cellular fructose toxicity.…”

Section: Discussionmentioning

confidence: 99%

The unexpected truth about dates and hypoglycemia

Yasawy¹

2016

J Fam Community Med

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Background:Dates are a concentrated source of essential nutrients, vitamins, minerals, and carbohydrates (CHOs), which are necessary for the maintenance of optimum health. Most of the CHOs in dates come from sugars including glucose and fructose. Dates are commonly consumed in Saudi Arabia, particularly at the time of breaking the fast to provide instant energy and maintain blood sugar level. However, dates may cause hypoglycemia in a rare condition named as heredity fructose intolerance (HFI), and a few families have been to see us with a history of that nature. This is to report the preliminary results of an on-going study of a group of patients who get symptoms of hypoglycemia following the ingestion of dates and have suffered for years without an accurate diagnosis.Methodology:This report is based on three patients, from the same family, living in a date growing region of the Kingdom of Saudi Arabia (KSA). The patients had been to several medical centers without getting any definite answers or diagnosis until they were referred to the Gastroenterology Clinic of King Fahd Hospital of the University, Al-Khobar, KSA. The data were obtained by careful history and laboratory investigations, and a final diagnosis of HFI made on fructose intolerance test (FIT).Results:The patients reported that they had avoided eating dates because of various symptoms, such as bloating, nausea, and even hypoglycemia when larger amounts were consumed. Their other symptoms included sleepiness, sweating, and shivering. After full examinations and necessary laboratory tests based on the above symptoms, FIT was performed and the patients were diagnosed with HFI. They were referred to a dietitian who advised a fructose-free diet. They felt well and were free of symptoms.Conclusion:HFI may remain undiagnosed until adulthood and may lead to disastrous complications and even death. The diagnosis can only be suspected after a careful dietary history is taken supported by FIT. This can prevent serious complications. Restricting dietary fructose may give relief from symptoms in a high proportion of patients with this disorder.

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“…*********************************************** QNGLVPIVEPEVIPDGDHDLEHCQYVTEKVLAAVYKALNDHHVYLEGTLLSPTW------233 ********************************************** ***.*. There is a paucity of literature on HFI and ALDOB gene studies from India, as only few case reports, without mutations, have been reported (Bharadia and Shivpuri 2012;Ananth et al 2003). Worldwide, common mutations such as p.A149P mutation, which showed a founder effect in studies, have simplified the diagnostic strategy in certain populations (Brooks and Tolan 1993).…”

Section: Discussionmentioning

confidence: 99%