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Summary
HYPOADRENOCORTICISM, FAMILIAL
ADRENAL HYPOPLASIA, CONGENITAL ADDISON DISEASE
240200
OMIM = Online Medalian Inheritance of Men
138
  • corticosteroids
  • mineralocorticoid
rare
autosomal recessive
mutations in the DAX-1 gene
symptoms
adrenal atrophy (autopsy)
apnea
cyanosis
feeding difficulties, poor feeding
hypoglycemia
onset, neonatal
seizures
tachypnea, hyperpnea, dyspnea, respiratory distress
vomiting
laboratory finding
D-Glucose0.503.003.305.50mmol/lserum
Cortisol 28.00662.00very lowserum
Sodium
Potassium
Literature
Monfort-Gouraud Met al.Severe megaloblastic anemia in child breast fed by a vegetarian mother, Article in FrenchAnn Pediatr40028-311993
Ciani Fet al.Prolonged exclusive breast-feeding from vegan mother causing an acute onset of isolated methylmalonic aciduria due to a mild mutase deficiencyClin Nutr190137-1392000
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Chu MLSala DA, Weiner HLIntrathecal baclofen in X-linked adrenoleukodystrophyPediatr Neurol240156-1582001
Yaghmai Ret al.Progressive cerebral edema associated with high methionine levels and betaine therapy in a patient with cystathionine beta-synthase (CBS) deficiencyAm J Med Genet108057-632002
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Smolka Vet al.Metabolic complications and neurologic manifestations of vitamin B12 deficiency in children of vegetarian mothers, Article in CzechCas Lek Cesk1400732-7352001