Fructose Intolerance, Hereditary

Alternative Names

  • Fructosemia
  • Fructose-1-Phosphate Aldolase Deficiency
  • Fructose-1,6-BisphosphateI Aldolase B Deficiency
  • Aldolase B Deficiency
  • ALDOB Deficiency
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WHO-ICD-10 version:2010

Endocrine, nutritional and metabolic diseases

Metabolic disorders

OMIM Number

229600

Mode of Inheritance

Autosomal recessive

Gene Map Locus

9q31.1

Description

Fructose intolerance becomes apparent in infancy at the time of weaning, when fructose or sucrose is added to the diet. Clinical features include recurrent vomiting, abdominal pain, and hypoglycemia that may be fatal. Long-term exposure to fructose can result in liver failure, renal tubulopathy, and growth retardation. Older patients who survive infancy develop a natural avoidance of sweets and fruits.

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
229600.1LebanonFemaleYes Hypoglycemia; Hepatomegaly; Fructose i...NM_000035.4:c.524C>AHomozygousAutosomal, RecessiveNair et al. 2018
229600.2JordanUnknown Fructose intoleranceNM_000035.4:c.524C>AHomozygousAutosomal, RecessiveAli et al. 2011
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