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Summary
FEEDING: THIAMINE DEFICIENY DD
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OMIM = Online Medalian Inheritance of Men

Detail information to gene locus by the National Center for Biotechnology Information NCBI:
  • vitamin B1 (thiamine)
Outbreak of life-threatening thiamine deficiency in infants in Israel caused by a defective soy-based formula
symptoms
abdominal distension
cardiomyopathy
cardiomyopathy, dilated
diarrhea
encephalopathy
failure to thrive
infections (severe or recurrent)
irritability
lactic acidosis
lethargy, drowsiness, malaise or sleep disorder
motor retardation
nystagmus
onset, infancy
ophthalmoplegia
vomiting
laboratory finding
Transketolase decreased activityerythrocytes
Lactic acid2.005.00 mmol/lplasma
Literature
Rotig Aet al.Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy and deafness (DISMOAD, Wolfram syndrome)J Inherit Metab Dis160527-5301995