Metabolic disease

Articles

• 17-hydroxylase deficiency
  26 May 2009

  Congenital adrenal hyperplasia due to 17α-hydroxylase deficiency is an uncommon form of congenital adrenal hyperplasia resulting from a defect in the gene for the enzyme CYP17A1.
  17-alpha hydroxylase deficiency causes 1% of congenital adrenal hyperplasia.
  All patients have female external genitalia due to increased deoxycorticosterone and arterial hypertension.
  It produces decreased synthesis of both cortisol and sex steroids, with resulting increase in mineralocorticoid production. (...)

• GLUT1 deficiency
  9 June 2003

  Synopsis
  intractable seizures in infancy
  acquired microcephaly
  developmental delay
  low glucose sugar levels in the cerebrospinal fluid, but not in the blood
  dominant transmission¸
  Etiology
  mutation in the GLUT1 gene
  Patients with this syndrome can have heterozygous mutations, with one allele being a normal wild type and one being mutant.
  An efficient transport of glucose across the blood-brain barrier is essential as it is such an important fuel for the brain, and this is (...)

• CDG2C
  28 November 2007

  leukocyte adhesion deficiency type 2 (LAD2)

• Bartter syndrome
  18 March 2005

  Types
  Bartter syndrome type 1 (MIM.601678): loss-of-function mutations in the butmetanide-sensitive sodium-potassium-chloride cotransporter-2 gene (SLC12A1) (MIM.600839)
  Bartter syndrome type 2 (MIM.241200): loss-of-function mutation in the potassium channel ROMK1 gene (KCNJ1) (MIM.600359)
  Bartter syndrome type 3 (classic Bartter syndrome) (MIM.607364): mutation in the kidney chloride channel B gene (CLCNKB) (MIM.602023)
  Bartter syndrome type 4 (infantile Bartter syndrome with (...)

• Zellweger disease
  17 March 2005

  Zellweger syndrome

• xanthinuria type 2
  18 March 2005

  Synopsis
  mental delay
  autism
  nephrocalcinosis
  osteopenia
  hair defects
  teeth defects
  renal cortical cysts (#14627688#)
  Etiology
  mutation in type II xanthinuria may not be in the structural gene for either xanthine dehydrogenase or aldehyde oxidase, but possibly in the mechanism responsible for inserting the essential sulfur atom into the active center of both enzymes. (MIM.603592)
  See also
  xanthinuria type 1
  References
  Zannolli R, (...)

• pulmonary Hurler disease
  14 March 2011

  Lung in Hurler disease; lung involvement in Hurler disease, Alpha-L-Iduronidase Deficiency, IDUA Deficiency, MPS I. Includes: Hurler Syndrome (MPS I H), Hurler-Scheie Syndrome (MPS I H/S), Scheie Syndrome (MPS I S)
  Digital case
  Case 202 (HPC:202) : Lung in Hurler disease
  Synopsis
  interstitial pneumonia
  interstitial deposition of mucopolysaccharides
  cholesterol bronchiolitis
  See also
  Hurler disease
  References
  NCBI (...)

• Menkes disease
  5 August 2008

  Definition: Menkes disease is a X-linked recessive disease of copper transportc aused by mutation in the gene encoding Cu(2+)-transporting ATPase, alpha polypeptide (ATP7A) (MIM.300011).
  Epidemiology
  Classic severe form shows onset at 2 to 3 months of age
  Early death (usually be 3 years of age)
  A milder form has also been reported
  Incidence ranges from 1 in 40,000 to 1 in 350,000 births
  Synopsis
  short stature
  intrauterine growth retardation (IUGR)
  microcephaly (...)

• ABCC8-associated hyperinsulinism
  25 January 2010

  Potassium channels in the plasma membrane of the pancreatic beta cells are critical in maintaining glucose homeostasis by responding to ATP and coupling metabolic changes to insulin secretion. These channels consist of subunits denoted the sulfonylurea receptor SUR1 and the inwardly rectifying ion channel KIR6.2, which are encoded by the genes ABCC8 and KCNJ11, respectively.
  Activating mutations in the subunit genes can result in monogenic diabetes, whereas inactivating mutations are the (...)

• hyperinsulinism-hyperammonemia syndrome
  24 April 2004

  HI/HA, HI-HA, GDH-associated hyperinsulinism

0 | ... | 20 | 30 | 40 | 50 | 60 | 70 | 80 | 90 | 100 | 110