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Summary
TRANSIENT NEONATAL DIABETES MELLITUS 1
TNDM1
601410
OMIM = Online Medalian Inheritance of Men
99886
6q24

Detail information to gene locus by the National Center for Biotechnology Information NCBI:
  • insulin
rare (1:400.000 - 1:500.000)
autosomal dominant, autosomal recessive,-+í
associated with mutation in the ZFP57 gene
imprinted gene infants develop diabetes in the first few weeks of life
remission within one and a half year
symptoms
dehydration
diabetes mellitus
failure to thrive
growth retardation
hyperglycemia
onset, neonatal
laboratory finding
D-Glucose0.000.00 increasedserumnewborn
Literature
Koeberl DDet al.Rare disorders of metabolism with elevated butyryl- and isobutyryl-carnitine detected by tandem mass spectrometry newborn screeningPediatr Res542219-2232003
Sebastio Get al.The molecular basis of homocystinuria due to cystathionine beta-synthase deficiency in Italian families, and reports of four novel mutationsAm J Hum Genet5661324-13331995
Domizio Set al.Glutaric aciduria type II: a case reportInt J Immunopathol Pharmacol184805-8082005
al-Essa MAet al.Glutaric aciduria type II: observations in seven patients with neonatal- and late-onset diseaseJ Perinatol202120-1282000
Beresford MWet al.So doctor, what exactly is wrong with my muscles? Glutaric aciduria type II presenting in a teenagerNeuromuscul Disord164269-2732006
Scriver CRPueschel S, Davies EHyper-beta-alaninemia associated with beta-aminoaciduria and gamma-aminobutyricaciduria, somnolence and seizuresN Engl J Med27406361966
Zlotogora Jet al.Molecular basis of late infantile metachromatic leukodystrophy in the Habbanite JewsHum Mutat52137-1431995
Freisinger PPadovani JC, Maroteaux PAn atypical form of mucolipidosis IIIJ Med Genet2911834-8361992
Wendel Uet al.Neonatal De Toni-Debr+®-Fanconi syndrome due to a defect in complex III of the respiratory chainEur J Pediatr1540915-9181995