Pitfalls in the Diagnosis of Hereditary Fructose Intolerance

Kim, Alexander Y.; Hughes, Joel J.; Dempsey, Angela Pipitone; Schatz, Krista Sondergaard; Wang, Tao; Gunay‐Aygun, Meral

doi:10.1542/peds.2019-3324

Cited by 10 publications

(10 citation statements)

References 22 publications

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“…Asia = China, Korea, India, Iraq, Jew (Israel), and Japan. Northern Europe = Norway, Sweden, and United Kingdom; A. Y. Kim et al (2020) present four alleles from North European. Central Europe = Austria, France, Germany, Netherlands, Poland, Switzerland, Turkey, and Yoguslavia; Southern Europe = Albania, Bosnia, Italy, Portugal, Romania, and Spain.…”

Section: Resultsmentioning

confidence: 99%

“…Central Europe = Austria, France, Germany, Netherlands, Poland, Switzerland, Turkey, and Yoguslavia; Southern Europe = Albania, Bosnia, Italy, Portugal, Romania, and Spain. Kriegshäuser et al (2007) and A. Y. Kim et al (2020) described 16 alleles from Europeans without specifying the region of the continent. Oceania = Australia, New Zealand.…”

Section: Resultsmentioning

confidence: 99%

“…Northern Europe = Norway, Sweden, and United Kingdom; A. Y. Kim et al (2020) Variants detected in different countries. Kajihara et al, 1990).…”

Section: Notementioning

confidence: 99%

See 2 more Smart Citations

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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Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

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Epidemiological aspects of hereditary fructose intolerance: A database study

2021

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“…These symptoms arise because breast milk contains lactose, which is comprised of glucose and galactose subunits, whereas select infant milk formulas and baby foods often contain sugar in the form of sucrose, which is a glucose and fructose disaccharide [ 39 ], therefore providing a source of fructose for F1P accumulation. While presentation of the disease takes many forms, some of the most common symptoms in infants include difficulty feeding, vomiting, failure to thrive [ 38 ], and aversion to sweet foods [ 40 , 41 ], which are related to the physiological consequences of F1P accumulation.…”

Section: Fructose Metabolism Disordersmentioning

confidence: 99%

Fructose and Mannose in Inborn Errors of Metabolism and Cancer

et al. 2021

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History suggests that tasteful properties of sugar have been domesticated as far back as 8000 BCE. With origins in New Guinea, the cultivation of sugar quickly spread over centuries of conquest and trade. The product, which quickly integrated into common foods and onto kitchen tables, is sucrose, which is made up of glucose and fructose dimers. While sugar is commonly associated with flavor, there is a myriad of biochemical properties that explain how sugars as biological molecules function in physiological contexts. Substantial research and reviews have been done on the role of glucose in disease. This review aims to describe the role of its isomers, fructose and mannose, in the context of inborn errors of metabolism and other metabolic diseases, such as cancer. While structurally similar, fructose and mannose give rise to very differing biochemical properties and understanding these differences will guide the development of more effective therapies for metabolic disease. We will discuss pathophysiology linked to perturbations in fructose and mannose metabolism, diagnostic tools, and treatment options of the diseases.

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“…There are various pitfalls in the diagnosis of HFI. Kim et al [ 27 ] in their case series of 5 patients with subtle symptoms and aversion to sweets. They make a pertinent point that emphasis of classic teaching on infantile acute liver failure and biochemical derangements, such as hypoglycemia and hypophosphatemia, after the first exposure to fructose may inadvertently increase the likelihood of missing cases of HFI characterized by other manifestations.…”

Section: Discussionmentioning

confidence: 99%

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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Pitfalls in the Diagnosis of Hereditary Fructose Intolerance

Cited by 10 publications

References 22 publications

Epidemiological aspects of hereditary fructose intolerance: A database study

Epidemiological aspects of hereditary fructose intolerance: A database study

Fructose and Mannose in Inborn Errors of Metabolism and Cancer

Hereditary fructose intolerance: A comprehensive review

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