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Summary
HYPERZINCEMIA WITH FUNCTIONAL ZINC DEPLETION
601979
OMIM = Online Medalian Inheritance of Men
251523
very rare
autosomal dominant?
error of Zn metabolism
[New Disorder?  - Sampson B et al. 1997]
symptoms
anemia
diarrhea
dwarfism
growth retardation
hepatomegaly (large liver)
osteoporosis
peripheral vascular disease
skin rash, eczematous or seborrhoic
laboratory finding
Zinc increasedplasma
Literature
Kiykim E,et al.Inherited metabolic disorders in Turkish patients with autism spectrum disordersAutism Res92217-2232016
Tai H,Zhang ZA novel compound heterozygous mutation in a Chinese boy with L-2-hydroxyglutaric aciduria: a case studyBMC Neurol2501172015