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Summary
APPARENT MINERALOCORTICOID EXCESS AME
11-BETA-HYDROXYSTEROID DEHYDROGENASE DEFICIENCY, TYPE II HSD11B2
218030
OMIM = Online Medalian Inheritance of Men
320
16q22.1

Detail information to gene locus by the National Center for Biotechnology Information NCBI:
rare
autosomal recessive
mutation in the HSD11B2 gene
symptoms
birthweight low (small for gestational age)
failure to thrive
headache (severe, recurrent or occipital, migraine)
hypertension
metabolic alkalosis
onset, childhood
onset, infancy
short stature
laboratory finding
Potassium decreasedserum
Tetrahydrocortisone0.000.00 decreasedurineno data
Tetrahydrocortisol0.000.00 increasedurineno data
Plasma renin activity (PRA) decreasedplasma
Cortisol/cortisone ratio5.0018.00 ratiourineno data
Aldosterone0.000.00 decreasedserum
Literature
Tazawa Yet al.Clinical heterogeneity of neonatal intrahepatic cholestasis caused by citrin deficiency: case reports from 16 patientsMol Genet Metab830213-2192004
Matern Det al.Acute fatty liver of pregnancy associated with short-chain acyl-coenzyme A dehydrogenase deficiencyJ Pediatr1384585-5882001
Fukao T,et al.Ketone body metabolism and its defectsJ Inherit Metab Dis374541-5512014
Techakittiroj Cet al.High protein diet mimics hypertyrosinemia in newborn infantsJ Pediatr1462281-2822005
Bellig LLMaternal acute fatty liver of pregnancy and the associated risk for long-chain 3-hydroxyacyl-coenzyme a dehydrogenase (LCHAD) deficiency in infantsAdv Neonatal Care4126-322004
Innes AMet al.Hepatic carnitine palmitoyltransferase I deficiency presenting as maternal illness in pregnancyPediatr Res47143-452000