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Summary
GLUCOCORTICOID DEFICIENCY, FAMILIAL ISOLATED. MIGEON SYNDROME
ADRENAL UNRESPONSIVENESS TO ACTH ADRENOCORTICAL UNRESPONSIVENESS TO ACTH, HEREDITARY
202200
OMIM = Online Medalian Inheritance of Men
361
18p11.21
rare autosomal recessive, hereditary unresponsiveness to adrenocorticotropic hormone
symptoms
defect of adrenal gland or function
dysphagia
early death
failure to thrive
feeding difficulties, poor feeding
hyperpigmentation
hypoglycemia
infections (severe or recurrent)
lethargy, drowsiness, malaise or sleep disorder
mental retardation
onset, childhood
onset, neonatal
seizures
short stature
laboratory finding
Adrenocorticotropic hormone (ACTH) 10.0020.00increasedplasma
D-Glucose0.201.002.805.00mmol/lserum
Cortisol0.002.0028.00662.00decreasedserum
Literature
Gibson KMet al.2-Methylbutyryl-coenzyme A dehydrogenase deficiency: a new inborn error of L-isoleucine metabolismPediatr Res476830-8332000
Patil Net al.Glutaric aciduria type I associated with learning disabilityIndian J Pediatr71109482004
Liang WCet al.Riboflavin-responsive glutaric aciduria type II with recurrent pancreatitisPediatr Neurol313218-2212004
Struys EAet al.Mutations in the D-2-hydroxyglutarate dehydrogenase gene cause D-2-hydroxyglutaric aciduriaAm J Hum Genet762358-3602005
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994