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Summary
ADRENAL HYPOPLASIA. ADDISON DISEASE, X-LINKED
ADRENAL HYPOPLASIA ADRENAL HYPOPLASIA, CONGENITAL
300200
OMIM = Online Medalian Inheritance of Men
95702
Xp21.2
  • corticosteroids
  • glucose infusion (acute)
  • sodium chloride
rare
autosomal recessive X-linked
mutation in the NR0B1 gene
disorders with adrenal insufficiency are Adrenoleukodystrophy, Adrenomyeloneuropathy, Glycerol kinase deficiency
symptoms
cryptorchism
cyanosis
dehydration
early death
failure to thrive
feeding difficulties, poor feeding
growth retardation
hyperpigmentation
hypoglycemia
hypotension
metabolic acidosis
seizures
tachypnea, hyperpnea, dyspnea, respiratory distress
vomiting
laboratory finding
Sodium128.00133.00134.00146.00mmol/lserum
Potassium5.9010.003.505.50mmol/lserum
Cortisol0.002.0028.00662.00nmol/lserum
17-Ketosteroids0.000.004.0014.00lowurinechildhood 6-12y
Glucose0.201.002.805.00mmol/lserum
pH7.007.407.357.45no unitblood
Adrenocorticotropic hormone (ACTH) increasedplasma
Literature
Monfort-Gouraud Met al.Severe megaloblastic anemia in child breast fed by a vegetarian mother, Article in FrenchAnn Pediatr40028-311993
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Kuokkanen Met al.Transcriptional regulation of the lactase-phlorizin hydrolase gene by polymorphisms associated with adult-type hypolactasiaGut525647-6522003
Suzuki Yet al.The clinical course of childhood and adolescent adrenoleukodystrophy before and after Lorenzos oilBrain Dev23030-332001
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Naim HYMolecular and cellular aspects and regulation of intestinal lactase-phlorizin hydrolaseHistol Histopathol162553-5612001
Nagasawa Het al.Neuroradiological findings in glutaric aciduria type I: report of four japanese patientsActa Paediatr Jpn344409-4151992
Verkruyse LAHofmann-SLLysosomal targeting of palmitoyl-protein thioesteraseJ Biol Chem2712615831-61996
Jarvela Iet al.Assignment of the locus for congenital lactase deficiency to 2q21, in the vicinity of but separate from the lactase-phlorizin hydrolase geneAm J Hum Genet6341078-10851998
Smolka Vet al.Metabolic complications and neurologic manifestations of vitamin B12 deficiency in children of vegetarian mothers, Article in CzechCas Lek Cesk1400732-7352001