Clinical and genetic analysis for a Chinese family with hereditary fructose intolerance

Chi, Zhen-ni; Hong, Jie; Yang, Jun; Zhang, Huijie; Dai, Meng; Cui, Bin; Zhang, Yu; Gu, Weiqiong; Zhang, Yifei; Liu, Qiaorui; Wang, Weiqing; Li, Xiaoying; Ning, Guang

doi:10.1007/s12020-007-9013-2

Cited by 8 publications

(10 citation statements)

References 13 publications

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“…Several patients are reported to have two null alleles without an exhibition of severe symptoms or unusual phenotypes. 10,17,21 In this case, the patient also showed typical symptoms of classic HFI and excellent prognosis after fructose restriction. It implies that harboring two null alleles does not lead to a severe phenotype.…”

Section: Discussionsupporting

confidence: 57%

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Hereditary Fructose Intolerance Diagnosed in Adulthood

et al. 2021

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Hereditary fructose intolerance (HFI) is an autosomal recessive disorder caused by a mutation in the aldolase B gene. HFI patients exhibit nausea, vomiting, abdominal pain, hypoglycemia, and elevated liver enzymes after dietary fructose exposure. Chronic exposure might lead to failure to thrive, liver failure, renal failure, and, eventually, death. HFI usually manifests in infants when they are being weaned off of breastmilk. Because HFI has an excellent prognosis when patients maintain a strict restrictive diet, some patients remain undiagnosed due to the voluntary avoidance of sweet foods. In the past, HFI was diagnosed using a fructose tolerance test, liver enzyme assays or intestinal biopsy specimens. Currently, HFI is diagnosed through the analysis of aldolase B mutations. Here, HFI was diagnosed in a 41-year-old woman who complained of sweating, nausea, and vomiting after consuming sweets. She had a compound heterozygous mutation in the aldolase B gene; gene analysis revealed pathogenic nonsense (c.178C>T, p.Arg60Ter) and frameshift (c.360_363delCAAA, p.Asn120LysfsTer32) variants. This is the first report of a Korean HFI patient diagnosed in adulthood.

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Section: Discussionsupporting

confidence: 57%

“…20 The Chinese patient, whose parents were cousins, was homozygote for a frameshift mutation c.479_482delAACA. 21 These mutations are uncommon in Western countries. In Asia, few HFI cases were reported, genetic testing was rare, and no study was conducted on the frequency of HFI.…”

Section: Discussionmentioning

confidence: 99%

Hereditary Fructose Intolerance Diagnosed in Adulthood

et al. 2021

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“…There were indications from the literature that these four alleles may be more common than previously thought. The nonsense mutation Δ4E4 was first identified as a private mutation in a British patient (Dazzo and Tolan 1990) but was later identified in many reports from Italian (Santamaria et al 1993, 1996), North American (Ali and Cox 1995), German (Santer et al 2005), and Chinese (Chi et al 2007) patients. Another nonsense mutation, R59Op, was initially described as widespread (Brooks and Tolan 1994), which was confirmed by reports of patients from Germany (Ali et al 1994b; Santer et al 2005) and France (Davit-Spraul et al 2008).…”

Section: Resultsmentioning

confidence: 99%

Increased prevalence of mutant null alleles that cause hereditary fructose intolerance in the American population

Coffee¹,

Yerkes²,

Ewen³

et al. 2009

J of Inher Metab Disea

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Mutations in the aldolase B gene (ALDOB) impairing enzyme activity toward fructose-1-phosphate cleavage cause hereditary fructose intolerance (HFI). Diagnosis of the disease is possible by identifying known mutant ALDOB alleles in suspected patients; however, the frequencies of mutant alleles can differ by population. Here, 153 American HFI patients with 268 independent alleles were analyzed to identify the prevalence of seven known HFI-causing alleles (A149P, A174D, N334K, Δ4E4, R59Op, A337V, and L256P) in this population. Allele-specific oligonucleotide hybridization analysis was performed on polymerase chain reaction (PCR)-amplified genomic DNA from these patients. In the American population, the missense mutations A149P and A174D are the two most common alleles, with frequencies of 44% and 9%, respectively. In addition, the nonsense mutations Δ4E4 and R59Op are the next most common alleles, with each having a frequency of 4%. Together, the frequencies of all seven alleles make up 65% of HFI-causing alleles in this population. Worldwide, these same alleles make up 82% of HFI-causing mutations. This difference indicates that screening for common HFI alleles is more difficult in the American population. Nevertheless, a genetic screen for diagnosing HFI in America can be improved by including all seven alleles studied here. Lastly, identification of HFI patients presenting with classic symptoms and who have homozygous null genotypes indicates that aldolase B is not required for proper development or metabolic maintenance.

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“…This hypothesis can explain the detection of this allele in patients from Korea and China (Chi et al, 2007; M. S. Kim et al, 2021). There are no studies on haplotypes linked to this variant, which could help elucidate its origin.…”

Section: The P(asn120lysfster32) Variantmentioning

confidence: 98%

Epidemiological aspects of hereditary fructose intolerance: A database study

2021

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Hereditary fructose intolerance (HFI) is an inborn error of fructose metabolism of autosomal recessive inheritance caused by pathogenic variants in the ALDOB gene that lead to aldolase B deficiency in the liver, kidneys, and intestine. Patients manifest symptoms, such as ketotic hypoglycemia, vomiting, nausea, in addition to hepatomegaly and other liver and kidney dysfunctions. The treatment consists of a fructose-restricted diet, which results in a good prognosis. To analyze the distribution of ALDOB variants described in patients and to estimate the prevalence of HFI based on carrier frequency in the gnomAD database, a systematic review was conducted to assess ALDOB gene variants among patients with HFI. The prevalence of HFI was estimated from the carrier frequency of variants described in patients, as well as rare variants predicted as pathogenic by in silico tools. The p.(Ala150Pro) and p.(Ala175Asp) variants are the most frequent and are distributed worldwide. However, these variants have particular distribution patterns in Europe. The analysis of the prevalence of HFI showed that the inclusion of rare alleles predicted as pathogenic is a more informative approach for populations with few patients. The data show that HFI has a wide distribution and an estimated prevalence of ~1:10,000.

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Clinical and genetic analysis for a Chinese family with hereditary fructose intolerance

Cited by 8 publications

References 13 publications

Hereditary Fructose Intolerance Diagnosed in Adulthood

Hereditary Fructose Intolerance Diagnosed in Adulthood

Increased prevalence of mutant null alleles that cause hereditary fructose intolerance in the American population

Epidemiological aspects of hereditary fructose intolerance: A database study

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