A Novel Frameshift Mutation of the ALDOB Gene in a Korean Girl Presenting with Recurrent Hepatitis Diagnosed as Hereditary Fructose Intolerance

Choi, Hae Won; Lee, Yeoun Joo; Oh, Seak Hee; Kim, Kyung Mo; Ryu, Jeong Min; Lee, Beom Hee; Kim, Gu Hwan; Yoo, Han Wook

doi:10.5009/gnl.2012.6.1.126

Cited by 10 publications

(9 citation statements)

References 15 publications

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“…There have been two HFI Korean childhood cases; this is the first report of a Korean adult patient. 15,16 One case was diagnosed through an enzyme assay of an intestinal and liver Asn120LysfsTer32), and c.178C>T (p.Arg60Ter). 10,11,[17][18][19] Interestingly, there is no report on the p.Ala150Pro mutation in Asian HFI patients.…”

Section: Discussionmentioning

confidence: 99%

“…Cases of acute liver failure in neonates were reported when exposed to sucrose-containing formula; 14 recurrent episodes of hepatitis have been reported in infancy. 15 In adults, patients show a lifelong history of avoiding sweet fruits and nausea after small amounts of sweets. 5 , 6 Therefore, thorough history taking is critical for HFI diagnosis.…”

Section: Discussionmentioning

confidence: 99%

“…There have been two HFI Korean childhood cases; this is the first report of a Korean adult patient. 15 , 16 One case was diagnosed through an enzyme assay of an intestinal and liver biopsy in 2002. The other case was diagnosed through genetic testing, which showed a c.758_759insT (p.V253fsX24) homozygote in 2012.…”

Section: Discussionmentioning

confidence: 99%

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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: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Hereditary Fructose Intolerance Diagnosed in Adulthood

et al. 2021

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“…In other Asian countries, few alleles have been described. In Japan and Korea, two private mutations or with a restricted distribution have been detected in homozygosis: NM_000035.4:c.720C>A, NP_000026.2:p.(Cys240Ter) (Kajihara et al, 1990) and NM_000035.4:c.761dup, NP_000026.2:p.(Thr255AsnfsTer23) (Choi et al, 2012), respectively (Table 2). Neither change was detected in gnomAD.…”

Section: Other Variantsmentioning

confidence: 99%

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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“…They may also be misdiagnosed with other nongenetic and genetic conditions, including eating disorder, recurrent hepatitis, and glycogen storage disease. [11][12][13] This set of circumstances may be further complicated by the suggestion that fructose intolerance may not be pathognomonic for HFI alone, given the description of rare patients with fruit-induced, food protein-induced enterocolitis syndrome. 14 Additionally, not all patients can be expected to initially present after transitioning to baby foods during midinfancy.…”

Section: Discussionmentioning

confidence: 99%