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Summary
CONGENITAL HYPERINSULINISM AND HYPOPITUITARISM (NEW DISEASE?)
CONGENITAL HYPERINSULINISM AND HYPOPITUITARISM
600288
OMIM = Online Medalian Inheritance of Men
---
very rare
symptoms
cleft eyelid (coloboma)
coarse facial features
developmental delay
hyperinsulinism
hypertelorism
hypoglycemia
hypoketotic hypoglycemia
hypopituitarism
onset, infancy
onset, neonatal
pulmonary valve, stenosis
laboratory finding
D-Glucose mmol/lplasma
Literature
Romanello M,et al.Comprehensive Evaluation of Plasma 7-Ketocholesterol and Cholestan-3+¦,5+¦,6+¦-Triol in an Italian Cohort of Patients Affected by Niemann-Pick Disease due to NPC1 and SMPD1 MutationsClin Chim Acta455039-452016
Yang Y,et al.Acute low-dose melamine affects hippocampal synaptic plasticity and behavior in ratsToxicol Lett214163-682012
Zhan X,et al.Blood 7-ketocholesterol level, clinical features and gene mutation analysis of 18 children with Niemann-Pick disease type CZhonghua Er Ke Za Zhi546419-4232016