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Summary
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB ARCL2B
PYRROLINE-5-CARBOXYLATE REDUCTASE DEFICIENCY
612940
OMIM = Online Medalian Inheritance of Men
357064
17q25.3
rare
autosomal recessive
mutation in the PYCR1 gene
symptoms
cutis laxa
failure to thrive
growth retardation
joint hypermobilty, dislocations
microcephaly (<2 SD for age)
skin hyperelasticity
visible veins
laboratory finding
no metabolic abnormalities
Literature
Gelfand AA,Gallagher RCCyclic vomiting syndrome versus inborn errors of metabolism: A review with clinical recommendationsHeadache561215-2212016
Kono SAceruloplasminemia: an updateInt Rev Neurobiol1100125-1512013