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Summary
HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY HIHGHH (AKT2)
240900
OMIM = Online Medalian Inheritance of Men
293964
19q13
very rare
autosomal dominant
mutation in the AKT2 gene
symptoms
hemihypertrophy
hypoglycemia
hypoketotic hypoglycemia
onset, infancy
onset, neonatal
seizures
laboratory finding
D-Glucose mmol/lblood
Insulin mU/lurine
Literature
Leadley RM,et al.A systematic review of the prevalence of Morquio A syndrome: challenges for study reporting in rare diseasesOrphanet J Rare Dis901732014
Groenendaal FBrouwer AJClinical aspects of induced hypothermia in full term neonates with perinatal asphyxiaEarly Hum Dev85273-762009
Morrone A,et al.Morquio A syndrome-associated mutations: a review of alterations in the GALNS gene and a new locus-specific databaseHum Mutat35111271-12792014
Tomatsu S,et al.Morquio A syndrome: diagnosis and current and future therapiesPediatr Endocrinol Rev Suppl10141-1512014
Kubaski F,et al.Bone mineral density in mucopolysaccharidosis IVBMol Genet Metab Rep. 2016 Aug 88:80-848080-842016