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Summary
LIPOID ADRENAL HYPERPLASIA (StAR DEFICIENCY)
LCAH
201710
OMIM = Online Medalian Inheritance of Men
90790
8p11.23
  • corticosteroids
  • mineralocorticoid
  • sodium chloride
rare
autosomal recessive
female external genitalia regardless genetic sex
symptoms
adrenal hyperplasia
cryptorchism
dehydration
early death
genitalia, ambigous
hypospadia
metabolic alkalosis
onset, neonatal
polycystic ovaries
puberty, delayed or missing
testes, undescended
vomiting
laboratory finding
Potassium 3.905.90increasedserum
Sodium 134.00146.00decreasedserum
Adrenocorticotropic hormone (ACTH) 4.4022.20increasedplasma
Steroids decreasedplasma
Steroids0.000.00 decreasedurineno data
17-Hydroxy-Progesterone decreasedplasma
Dehydroepiandrosterone (DHEA) decreasedplasma
Androstenedione decreasedplasma
Deoxycorticosterone (DOC) decreasedplasma
Corticosterone decreasedplasma
Cortisol decreasedplasma
Literature
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Yang SY,et al.Roles of 17+¦-hydroxysteroid dehydrogenase type 10 in neurodegenerative disordersJ Steroid Biochem Mol Biol1430460-4722014
Duran MBaumgartner ER, Sourmala TM, Bruinvis L, Dorland L, Smeitink JAM, Poll-The BTCerebrospinal fluid organic acids in Biotinidase deficiencyJ Inherit Metab Dis160513-5161993
Aoyama Y,et al.Application of multiplex ligation-dependent probe amplification, and identification of a heterozygous Alu-associated deletion and a uniparental disomy of chromosome 1 in two patients with 3-hydroxy-3-methylglutaryl-CoA lyase deficiencyInt J Mol Med3561554-15562015
Rauschenberger K,et al.A non-enzymatic function of 17beta-hydroxysteroid dehydrogenase type 10 is required for mitochondrial integrity and cell survivalEMBO Mol Med2251-622010
Le Stunff Cet al.The insulin gene VNTR is associated with fasting insulin levels and development of juvenile obesityGenet260444-4462000
Martin MGet al.Defects in Na+/glucose cotransporter (SGLT1) trafficking and function cause glucose-galactose malabsorptionNat Genet120216-2201996
Dos Santos Mello M,et al.Increased oxidative stress in patients with 3-hydroxy-3-methylglutaric aciduriaMol Cell Biochem4021149-1552015
Fernandes CG,et al.Induction of a Proinflammatory Response in Cortical Astrocytes by the Major Metabolites Accumulating in HMG-CoA Lyase Deficiency: the Role of ERK Signaling Pathway in Cytokine ReleaseMol Neurobiol5363586-35952015
Wang Det al.Mutational analysis of GLUT1 (SLC2A1) in glut-1 deficiency syndromeHum Mutat160224-2312000
Leipnitz G,Vargas CR, Wajner MDisturbance of redox homeostasis as a contributing underlying pathomechanism of brain and liver alterations in 3-hydroxy-3-methylglutaryl-CoA lyase deficiencyJ Inherit Metab Dis3861021-10282015
Melanconet al.Dicarboxylic aminoaciduria: an inborn error of amino acid conservationJ Pediatr910422-4271977
Gardner RJet al.An imprinted locus associated with transient neonatal diabetes mellitusHum Mol Genet94589-5962000
Zonanaet al.Familial neonatal and infantile seizures: an autosomal-dominant disorderAm J Med Genet180455-4591984