Epidemiological aspects of hereditary fructose intolerance: A database study

Pinheiro, Franciele Cabral; Sperb‐Ludwig, Fernanda; Schwartz, Ida Vanessa Döederlein

doi:10.1002/humu.24282

Cited by 15 publications

(19 citation statements)

References 109 publications

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“…The most frequent P/LP site in the gnomAD-TOTAL (all populations in gnomAD) is A150P (1:323), and it is also the most frequent site in admixed American (1:714), Finnish in Finland (1:244) and non-Finland European (1:189) populations. The hotspot detected in this study is consistent with a previous study [ 15 ]. However, the frequency is low in the Chinese Children's Rare Disease Genetic Testing Clinical Collaboration System (CCGT) Child Cohort (1:20,833).…”

Section: Resultssupporting

confidence: 93%

“…The missense mutations A150P and A175D are the two most common alleles in the United States of America, Germany, Italy, the United Kingdom, France, Poland, etc., whereas A175D and R60* in Poland, A150P and N120Kfs*32 in Spain, and N335K and A150P in Australia are the most common alleles in those countries. The situation for the Indian population is very complex, and several variants with high allele frequency (AF), including c.112 + 1delG, c.324 + 1G > A, and c.380–1 G > A, have been identified [ 15 ]. The AF characteristics of pathogenic or likely pathogenic (P/LP) ALDOB variants in the Chinese population are unclear.…”

Section: Introductionmentioning

confidence: 99%

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Estimation of hereditary fructose intolerance prevalence in the Chinese population

Tang

Chen

et al. 2022

Orphanet J Rare Dis

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Background Hereditary fructose intolerance (HFI) caused by aldolase B reduction or deficiency that results in fructose metabolism disorder. The disease prevalence in the Chinese population is unknown, which impedes the formulation of HFI screening and diagnosis strategies. Materials and methods By searching a local cohort (Chinese Children’s Rare Disease Genetic Testing Clinical Collaboration System, CCGT) and public databases (ClinVar and Human Gene Mutation Database) and reviewing HFI-related literature, we manually curated ALDOB pathogenic or likely pathogenic (P/LP) variants according to ACMG guidelines. Allele frequency (AF) information from the local database CCGT and the public databases HuaBiao and gnomAD for ALDOB P/LP variants was used to estimate and the HFI prevalence in the Chinese population and other populations by the Bayesian framework. We collected the genotype and clinical characteristics of HFI patients from the CCGT database and published literature to study genotype–phenotype relationships. Result In total, 81 variants of ALDOB were curated as P/LP. The estimated Chinese HFI prevalence was approximately 1/504,678, which was much lower than that for non-Finland European (1/23,147), Finnish in Finland (1/55,539), admixed American (1/132,801) and Ashkenazi Jewish (1/263,150) populations. By analyzing the genetic characteristics of ALDOB in the Chinese population, two variants (A338V, A338G) had significantly higher AFs in the Chinese population than in the non-Finland European population from gnomAD (all P values < 0.05). Five variants (A150P, A175D, N335K, R60*, R304Q) had significantly lower AFs (all P values < 0.1). The genotype–phenotype association analyses were based on 68 reported HFI patients from a literature review and the CCGT database. The results showed that patients carrying homozygous variant sites (especially A150P) were more likely to present nausea, and patients carrying two missense variant sites were more likely to present aversion to sweets and fruit (all P values < 0.05). Our research reveals that some gastrointestinal symptoms seem to be associated with certain genotypes. Conclusion The prevalence of HFI in the Chinese population is extremely low, and there is no need to add HFI testing to the current newborn screening programs if medical costs are considered. A genetic testing strategy is suggested for early diagnosis of HFI.

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Section: Resultssupporting

confidence: 93%

Section: Introductionmentioning

confidence: 99%

Estimation of hereditary fructose intolerance prevalence in the Chinese population

Tang

Chen

et al. 2022

Orphanet J Rare Dis

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“…Mutational aberrations include simple missense mutations, deletions, frameshift mutations, and mutations at splicing sites. A systemic review was conducted to assess ALDOB gene variants among patients with HFI[ 6 ]. 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.…”

Section: Epidemiology and Geneticsmentioning

confidence: 99%

“…The application of in silico tools can significantly improve the detection of genes and variation[ 8 ]. The studies included in the systematic review described 1426 alleles involved in the pathogenesis of HFI, spread in 29 countries on four continents[ 6 ]. 68 variants in ALDOB were identified among patients with HFI distributed in different populations.…”

Section: Epidemiology and Geneticsmentioning

confidence: 99%

“…Renal involvement usually occurs in the form of proximal renal tubular acidosis and may lead to chronic renal insufficiency. Metabolic derangements include hypoglycemia, lactic acidosis, hypophosphatemia, hyperuricemia and hypermagnesemia[ 6 ]. HFI presenting as relapsing acute axonal neuropathy has also been reported recently, which improves after dietary fructose omission[ 22 ].…”

Section: Clinical Featuresmentioning

confidence: 99%

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Hereditary fructose intolerance: A comprehensive review

Singh¹,

Sarma²

2022

WJCP

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Hereditary fructose intolerance (HFI) is a rare autosomal recessive inherited disorder that occurs due to the mutation of enzyme aldolase B located on chromosome 9q22.3. A fructose load leads to the rapid accumulation of fructose 1-phosphate and manifests with its downstream effects. Most commonly children are affected with gastrointestinal symptoms, feeding issues, aversion to sweets and hypoglycemia. Liver manifestations include an asymptomatic increase of transaminases, steatohepatitis and rarely liver failure. Renal involvement usually occurs in the form of proximal renal tubular acidosis and may lead to chronic renal insufficiency. For confirmation, a genetic test is favored over the measurement of aldolase B activity in the liver biopsy specimen. The crux of HFI management lies in the absolute avoidance of foods containing fructose, sucrose, and sorbitol (FSS). There are many dilemmas regarding tolerance, dietary restriction and occurrence of steatohepatitis. Patients with HFI who adhere strictly to FSS free diet have an excellent prognosis with a normal lifespan. This review attempts to increase awareness and provide a comprehensive review of this rare but treatable disorder.

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Development of tools to facilitate the diagnosis of hereditary fructose intolerance

et al. 2023

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Although hereditary fructose intolerance (HFI) is an inborn error of fructose metabolism that classically presents at infancy, the diagnosis is often missed or delayed. In this study, we aimed to develop tools to facilitate the diagnosis of HFI. The intake of fructose‐containing food products, that is, fruit, fruit juice and sugar‐sweetened beverages, was assessed by a 3‐day food diary in adult HFI patients (n = 15) and age, sex, and BMI‐matched controls (n = 15). Furthermore, glycosylation of transferrin was examined using high‐resolution mass spectrometry and abnormally glycosylated transferrin was expressed as ratio of normal glycosylated transferrin. We found that the sensitivity and specificity of the 3‐day food diary for the intake of at least one fructose‐containing food product were both 100%. Both mono‐glyco:diglyco transferrin and a‐glyco+mono‐glyco:di‐glyco transferrin were greater in HFI patients and had a high‐discriminatory power (area under the receiver operating characteristic curve: 0.97 and 0.94, respectively). In this well‐characterized cohort of adult HFI patients, the 3‐day food questionnaire and the glycosylation pattern of transferrin are valuable tools to facilitate the recognition and diagnosis of HFI in adult patients.

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Epidemiological aspects of hereditary fructose intolerance: A database study

Cited by 15 publications

References 109 publications

Estimation of hereditary fructose intolerance prevalence in the Chinese population

Estimation of hereditary fructose intolerance prevalence in the Chinese population

Hereditary fructose intolerance: A comprehensive review

Development of tools to facilitate the diagnosis of hereditary fructose intolerance

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