Related Experiment Video
Updated: Mar 13, 2026
07:07
Measuring Glucose Uptake in Drosophila Models of TDP-43 Proteinopathy
Published on: August 3, 2021
3.2K
Relapsing Acute Axonal Neuropathy in Hereditary Fructose Intolerance
Anna Maitre1, Anna Maw1, Uma Ramaswami1
1Paediatric Intensive Care, Department of Paediatrics, Addenbrooke's Hospital, Cambridge, United Kingdom.
Pediatric Neurology
|October 11, 2016
Summary
Hereditary fructose intolerance, typically diagnosed in childhood, can cause severe neurological issues like neuropathy. Early diagnosis and a fructose-free diet can prevent these serious complications.
Area of Science:
- Neurology
- Metabolic Disorders
- Genetics
Background:
- Hereditary fructose intolerance (HFI) is a genetic metabolic disorder.
- HFI typically presents in infancy with severe metabolic acidosis and hypoglycemia.
- Severe neurological abnormalities have not been previously associated with HFI.
Observation:
- A five-year-old boy presented with a relapsing-remitting neuropathy, mimicking acute motor axonal neuropathy (AMAN).
- The patient was subsequently diagnosed with undiagnosed hereditary fructose intolerance.
- A fructose exclusion diet led to a significant reduction in neurological episodes.
Findings:
- The patient's younger brother, diagnosed with HFI via screening, remained asymptomatic on a fructose-free diet.
- This case suggests a link between hereditary fructose intolerance and severe neurological dysfunction.
- Neurological symptoms in HFI may be related to chronic fructose exposure.
Implications:
- Early diagnosis of HFI is crucial for preventing neurological complications.
- Implementing a fructose-free diet can mitigate or prevent neuropathy in HFI patients.
- This study highlights the importance of considering HFI in children with unexplained neurological disorders.
Related Concept Videos
01:27Glucose Transporters
28.0K
Glucose transporters facilitate the transport of glucose across the cell membrane. In addition to glucose, some glucose transporters can also aid the movement of other hexoses such as fructose, mannose, and galactose.
Facilitated diffusion-glucose transporters (GLUTs) are encoded by the solute-linked carrier (SLC) family 2, subfamily A gene family, or SLC2A. The 14 GLUT protein members are distributed into three classes:
Facilitated diffusion-glucose transporters (GLUTs) are encoded by the solute-linked carrier (SLC) family 2, subfamily A gene family, or SLC2A. The 14 GLUT protein members are distributed into three classes:
28.0K
01:20Inborn Errors of Metabolism
985
Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
985