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Summary
DONOHUE SYNDROME
LEPRECHAUNISM
246200
OMIM = Online Medalian Inheritance of Men
508
19p13.12
very rare (w>m)
autosomal recessive
mutation in the insulin receptor gene
symptoms
cardiac involvement, cardiac defects
cardiomyopathy
cardiomyopathy, hypertrophic
cholestasis
cirrhosis or fibrosis of liver
dwarfism
dysmorphism
early death
failure to thrive
growth retardation
hyperglycemia
hyperinsulinism
hyperkeratosis
hypertrichosis
hypoglycemia
infections (severe or recurrent)
onset, infancy
onset, neonatal
pancreatic insufficiency
polycystic ovaries
laboratory finding
Insulin increasedplasma
Literature
Mitsubuchi H,et al.Biochemical and clinical features of hereditary hyperprolinemiaPediatr Int564492-4962014
Brosco JP,et al.The lure of treatment: expanded newborn screening and the curious case of histidinemiaPediatrics1253417-4192010
Mitsubuchi H,et al.Biochemical and clinical features of hereditary hyperprolinemiaPediatr Int564492-4962014
Srivastava D,et al.The three-dimensional structural basis of type II hyperprolinemiaJ Mol Biol4203176-1892012
van de Ven S,et al.Long-term clinical outcome, therapy and mild mitochondrial dysfunction in hyperprolinemiaJ Inherit Metab Dis373383-3902014
Plecko BPyridoxine and pyridoxalphosphate-dependent epilepsiesHandb Clin Neurol11301811-18172013