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Summary
CYCLIC VOMITING SYNDROME DD
CYCLIC VOMITING SYNDROME WITH NEUROMUSCULAR DISEASE CVS
500007
OMIM = Online Medalian Inheritance of Men
Cyclic vomiting syndrome
(CVS) is a functional disorder characterized by stereotypical episodes
of intense vomiting separated by weeks to months. Although it can occur
at any age, the most common age at presentation is 3-7 years [Kaul A 2015].
Inborn errors of metabolism should be considered in the patient presenting with a recurrent vomiting phenotype [Gelfand AA 2015].
symptoms
headache (severe, recurrent or occipital, migraine)
onset, childhood
vomiting
laboratory finding
Literature
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Bataillard Met al.Atypical MELAS syndrome associated with a new mitochondrial tRNA glutamine point mutationNeurology563405-4072001
Seow HFet al.Hartnup disorder is caused by mutations in the gene encoding the neutral amino acid transporter SLC6A19Nat Genet3691003-10072004
Lehnert Wet al.Long-term follow up of a new case of hawkinsinuriaEur J Pediatr1587578-5821999
Teksam OYurdakok M, Coskun TMolybdenum cofactor deficiency presenting with severe metabolic acidosis and intracranial hemorrhageJ Child Neurol202155-1572005
Rashed MSet al.Determination of urinary S-sulphocysteine, xanthine and hypoxanthine by liquid chromatography-electrospray tandem mass spectrometryBiomed Chromatogr193223-2302005
Kraut JASachs GHartnup disorder: unraveling the mysteryTrends Pharmacol Sci26253-552005
Rashed MSet al.Determination of urinary S-sulphocysteine, xanthine and hypoxanthine by liquid chromatography-electrospray tandem mass spectrometryBiomed Chromatogr193223-2302005
Nozaki Jet al.Homozygosity mapping to chromosome 5p15 of a gene responsible for Hartnup disorderBiochem Biophys Res Commun2842255-2602001