Metabolic disease

Articles

• cystinosis
  15 April 2005

  Localization
  renal cystinosis
  medullary cystinosis
  hepatic cystinosis
  References
  Gahl WA, Thoene JG, Schneider JA. Cystinosis. N Engl J Med. 2002 Jul 11;347(2):111-21. PMID: #12110740#

• primary hyperoxaluria
  18 January 2006
• VLCAD deficiency
  21 April 2005

  very long-chain acyl-CoA dehydrogenase deficiency

• 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 (...)

• carnitine palmitoyltransferase deficiency type 1
  20 April 2005

  CPTD1, CPT1

• plasmalogens biosynthesis
  9 June 2003

  Pathology:
  anomalies of plasmalogens biosynthesis (plasmalogens deficeincy)

• encephalomyopathic mtDNA depletion syndrome with methylmalonic aciduria
  10 March 2010

  SUCLA2-associated mitochondrial DNA depletion syndrome; SUCLA2-associated MDDS

• glycogen storage disease type 9a
  7 May 2010

  GSD9q

• progressive familial intrahepatic cholestasis type 3
  21 November 2011

  PFIC3, MDR3 deficiency

• Antley-Bixler syndrome
  25 April 2005

  The Antley-Bixler syndrome is a rare autosomal recessive disease which includes musculoskeletal, craniofacial, and urogenital anomalies.
  The most common skeletal anomalies are radiohumeral synostosis, craniosynostosis, multiple joint contractures, arachnodactyly, femoral and ulnar bowing, camptodactyly, synostoses of carpal and tarsal bones, clubfoot, and vertebral body anomalies. The facial anomalies include: midface hypoplasia often with choanal stenosis or atresia, proptosis, a (...)

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