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Summary
MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY
DHFR DEFICIENCY
613839
OMIM = Online Medalian Inheritance of Men
319651
5q14.1
rare (<1:1000000)
autosomal recessive
mutation in the dihydrofolate reductase gene
symptoms
anemia
ataxia
cerebellar atrophy or hypoplasia
cerebral atrophy
developmental delay
feeding difficulties, poor feeding
hepatomegaly (large liver)
hypotonia
learning disability
microcephaly (<2 SD for age)
onset, childhood
onset, infancy
pallor
pancytopenia
seizures
thrombopenia, thrombocytopenia
laboratory finding
5-Methyltetrahydrofolate decreasedcerebrospinal fluid
Literature
Gupta D,Thappa DMMongolian spots: How important are they?World J Clin Cases18230-2322013
Gupta D,Thappa DMMongolian spots: How important are they?World J Clin Cases18230-2322013