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Summary
3-BETA-HYDROXYSTEROID DEHYDROGENASE DEFICIENCY
ADRENAL HYPERPLASIA II STEROID 3 BETA-HYDROXYSTEROID DEHYDROGENASE DEFICIENCY
201810
OMIM = Online Medalian Inheritance of Men
90791
1p12

Detail information to gene locus by the National Center for Biotechnology Information NCBI:
  • dexamethasone
rare
autosomal recessive
near total absence of adrenal steroids diagnosis may be difficult in milder deficiencies provocative testing with ACTH in milder forms elevated ratio of delta5 to delta4 steroids are diagnostic
symptoms
adrenal insufficiency
cirrhosis or fibrosis of liver
clitoral hypertrophy
cryptorchism
dehydration
genitalia, ambigous
hyperpigmentation
hypoglycemia
hypospadia
masculinisation of the female
no clinical signs or symptoms
virilisation
vomiting
laboratory finding
D-Glucose0.503.002.805.00mmol/lserum
Potassium5.9010.003.505.50mmol/lserum
Sodium128.00133.00134.00146.00mmol/lserum
17-Ketosteroids0.000.00 increasedurineno data
Pregnenolone increasedplasma
17-Hydroxypregnenolone increasedplasma
17-Hydroxypregnenolone0.000.00 increasedurineno data
Pregnenolone0.000.00 increasedurineno data
Dehydroepiandrosterone (DHEA) increasedplasma
16-Hydroxy-dehydroepiandrosterone increasedplasma
Adrenocorticotropic hormone (ACTH) increasedplasma
Cortisol 28.00662.00decreasedserum
17-Hydroxy-Progesterone decreasedplasma
Literature
Perez-Duenas Bet al.Long-term evolution of eight Spanish patients with CDG type Ia: typical and atypical manifestationsEur J Paediatr Neurol135444-4512009
Belmont JWet al.Congenital sucrase-isomaltase deficiency presenting with failure to thrive, hypercalcemia, and nephrocalcinosisBMC Pediatr2142002
Niezen-Koning KEet al.Succinyl-CoA:acetoacetate transferase deficiency: identification of a new patient with a neonatal onset and review of the literatureEur J Pediatr15611870-8731997
Marsden Det al.Anabolic effect of human growth hormone: management of inherited disorders of catabolic pathwaysBiochem Med Metab Biol522145-1541994
Thomas EA study of the response to protein-modified diets for propionic acidemia in twelve patientsBrain Dev (Suppl)16058-631996
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Grunewald SThe clinical spectrum of phosphomannomutase 2 deficiency (CDG-Ia).Biochim Biophys Acta002009
Clements PRet al.Biochemical characterization of patients and prenatal diagnosis of sialic acid storage disease for three familiesJ Inherit Metab Dis110301988
Renlund Met al.Clinical and laboratory diagnosis of Salla disease in infancy and childhoodJ Pediatr10402321984
Fukao Tet al.Succinyl-CoA:3-ketoacid CoA transferase (SCOT): cloning of the human SCOT gene, tertiary structural modeling of the human SCOT monomer, and characterization of three pathogenic mutationsGenomics682144-1512000