SLOS, SLO syndrome, RSH syndrome, Rutledge lethal multiple congenital anomaly syndrome, polydactyly-sex reversal-renal hypoplasia syndrome, letahl acrodysgenital syndrome
Home > Keywords > Physiopathological pathways > Metabolic disease
Metabolic disease
Metabolic pathway
Articles
-
Smith-Lemli-Opitz syndrome
25 November 2003 -
metachromatic leukodystrophies
4 June 2006arysulfatase A deficiency, ARSA deficiency, cerebroside sulfatase deficiency, sulfatide lipidosis, MLD, metachromatic leukodystrophy, sulfatase deficiency
-
Niemann-Pick diseases
16 October 2003Niemann-Pick disease, NPDs
-
glycogen storage disease type 4
25 April 2004GSD4; glycogenosis type 4; glycogen storage disease type IV, glycogenosis type IV, GSD IV, glycogen branching enzyme deficiency, GBE1 deficiency, Andersen disease, Brancher deficiency, amylopectinosis, familial cirrhosis with deposition of abnormal glycogen, GSD4
-
glycogen storage diseases
28 January 2006glycogenosis, glycogenoses, GSDs
-
Leigh syndrome
28 May 2003Leigh’s syndrome
-
mucolipidosis type IIIa
17 February 2006classical pseudo-Hurler polydystrophy
-
cystinosis
15 April 2005Localization
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# -
carnitine palmitoyltransferase deficiencies
17 March 2005Types
carnitine palmitoyltransferase deficiency type 1 (CPTD1) (MIM.255120)
carnitine palmitoyltransferase deficiency type 2 (CPTD2) lethal neonatal CPTD2 (MIM.608836) infantile CPTD2 (MIM.600649) adult-onset CPTD2 (MIM.255100)
References
Sigauke E, Rakheja D, Kitson K, Bennett MJ. Carnitine palmitoyltransferase II deficiency: a clinical, biochemical, and molecular review. Lab Invest. 2003 Nov;83(11):1543-54. PMID: (...) -
VLCAD deficiency
21 April 2005very long-chain acyl-CoA dehydrogenase deficiency