AI Article Synopsis
- Hereditary fructose intolerance is a rare genetic disorder that leads to severe health issues, including liver failure and growth problems, when someone is exposed to fructose.
- A 2-month-old boy with pyloric stenosis developed serious complications, including abnormal blood clotting and liver failure, prompting genetic testing.
- The tests identified specific gene mutations linked to hereditary fructose intolerance, and after starting a fructose-free diet, the patient's health improved significantly.
Article Abstract
Hereditary fructose intolerance is a rare autosomal recessive metabolic disorder characterized by liver failure, renal tubulopathy, growth retardation, and occasionally death upon exposure to fructose. We present a 2-month-old male infant diagnosed with pyloric stenosis who developed disseminated intravascular coagulopathy following pyloromyotomy. Unexplained persistent coagulopathy, acute liver failure, and metabolic dysfunction led to whole-exome sequencing, which revealed compound heterozygous variants in ALDOB (p.Arg60Ter and p.Ala150Pro), diagnostic of hereditary fructose intolerance. Shortly after initiating a fructose-free diet, our patient had resolution of his coagulopathy, hepatic, and metabolic dysfunction.
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| http://dx.doi.org/10.1097/MPH.0000000000002443 | DOI Listing |
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