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Summary
ACTH DEFICIENCY, ISOLATED
ACTH DEFICIENCY ADRENOCORTICOTROPIC HORMONE DEFICIENCY, ISOLATED
201400
OMIM = Online Medalian Inheritance of Men
91356
1q24.2
  • corticosteroids
rare (33 cases in the first year of life)
autosomal recessive
mutations in the TBX19 gene
symptoms
hypoglycemia
hypotension
muscle weakness
nausea
onset, adulthood
onset, childhood
vomiting
weight loss
laboratory finding
Adrenocorticotropic hormone (ACTH) 10.0020.00decreasedplasma
Cortisol0.002.0028.00662.00nmol/lserum
D-Glucose0.503.002.805.00mmol/lserum
Potassium5.9010.003.505.50mmol/lserum
Sodium128.00133.00134.00146.00mmol/lserum
17-Hydroxyketosteroids 2.8015.50lowurine
17-Ketosteroids0.000.004.0014.00lowurinechildhood 6-12y
Calcium0.000.00 normal-increasedserum
Literature
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Olinsky Set al.Chromosomal mapping of the human M6 genesGenomics133532-5361996
Merinero Bet al.Variable clinical findings and biochemical presentation of seven spanish cases with glutaryl-CoA-dehydrogenase deficiencyNeuropediatrics265238-2421995
Sakura Net al.Asthma as the first presenting symptom of complex glycerol kinase deficiencyActa Paediatr Scand800723-7251991
Pineda Met al.The allopurinol test in patients with Rett syndromeJ Inherit Metab Dis163577-5801993
Wolfe DESchindler D, Desnick RJNeuroaxonal dystrophy in infantile alpha-N-acetylgalactosaminidase deficiencyJ Neurol Sci132044-561995
Lappalainen RRiikonen RSHigh levels of cerebrospinal fluid glutamate in Rett syndromePediatr Neurol150213-2161996
Lehotay DCet al.Blood acylcarnitine levels in normal newborns and heterozygotes for medium-chain acyl-CoA dehydrogenase deficiency: a relationship between genotype and biochemical phenotype?J Inherit Metab Dis27181-882004