Publications by authors named "Herbert Korall"
Article Synopsis
- AICA ribosiduria is a rare disorder linked to developmental delays, seizures, and vision issues, caused by mutations in the ATIC gene.
- A teenage patient showed two specific mutations in ATIC, including one that had not been reported before.
- A purine-enriched diet reduced harmful substances in the body, suggesting that dietary changes could be a potential treatment for this condition.
Tetrahydrobiopterin (BH4), the natural cofactor of phenylalanine hydroxylase (EC 1.14.16.
View Article and Find Full Text PDFWe report the successful treatment using low-dose vigabatrin (21.5-34 mg/kg/day) of a 10-year-old girl with succinic semialdehyde dehydrogenase (SSADH) deficiency We verified that 4-hydroxybutyric acid (GHB) concentrations in serum, cerebrospinal fluid, and urine continuously decreased in parallel with significant clinical improvement. Our results suggest that GHB quantification in physiological fluids may be a useful laboratory parameter for monitoring efficacy of vigabatrin treatment in SSADH deficiency.
View Article and Find Full Text PDFUnlabelled: In a period of 40 months (1st March 1999 to 30th June 2002) 610,000 blood samples were analysed in one screening centre for citrulline as a pilot study for neonatal screening using tandem mass spectrometry. Persistent hypercitrullinaemia (Cit >1.5 mg/dl or 85.
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