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Summary
AMISH LETHAL MICROCEPHALY THIAMINE METABOLISM DYSFUNCTION SYNDROME 3 (MICROCEPHALY TYPE)
THIAMINE METABOLISM DYSFUNCTION SYNDROME 3 (MICROCEPHALY TYPE) THMD3
607196
OMIM = Online Medalian Inheritance of Men
99742
17q25.1
very rare, 1 in 480 among Old Order Amish
autosomal recessive
mutation in the SLC25A19 gene
all reported patients have been from the Pennsylvania Amish community
symptoms
contractures, joints
early death
hepatomegaly (large liver)
hypotonia
irritability
lactic acidosis
microcephaly (<2 SD for age)
onset, neonatal
psychomotor retardation
small chin or micrognathia
laboratory finding
Sedoheptulose-7-phosphate increasedurine
L-Lactic acid blood
L-Lactic acid increasedurine
Literature
Nyhan WLDisorders of purine and pyrimidine metabolismMol Genet Metab86125-332005
Meulendijks D,et al.Improving safety of fluoropyrimidine chemotherapy by individualizing treatment based on dihydropyrimidine dehydrogenase activity - Ready for clinical practice?Cancer Treat Rev50023-342016
van Kuilenburg AB,vaDe Abreu RA, van Gennip AHPharmacogenetic and clinical aspects of dihydropyrimidine dehydrogenase deficiencyAnn Clin Biochem40041-452003