Lipoatrophy with Diabetes, Hepatic steatosis, hypertrophic Cardiomyopathy and leucomelanodermic Papules (LDHCP)
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Metabolic disease
Metabolic pathway
Articles
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LDHCP syndrome
20 March 2005 -
glycogen storage disease type 1b
13 October 2009GSD1b; glycogenosis type 1b
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diabetic embryopathy
5 April 2004Synopsis
caudal regression syndrome and sirenomelia
holoprosencephaly
References
Eriksson UJ, Borg LA, Cederberg J, Nordstrand H, Siman CM, Wentzel C, Wentzel P. Pathogenesis of diabetes-induced congenital malformations. Ups J Med Sci. 2000;105(2):53-84. PMID: #11095105#
Kousseff BG. Diabetic embryopathy. Curr Opin Pediatr. 1999 Aug;11(4):348-52. PMID: #10439209#
Reece EA, Homko CJ, Wu YK, Wiznitzer A. The role of free radicals and membrane lipids in diabetes-induced congenital (...) -
proteoglycans defects
6 October 2003proteoglycan defects
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mucolipidosis type IV
12 November 2003Mucolipidosis type IV (ML-IV) is an autosomal recessive lysosomal storage disease that causes severe neurologic abnormalities.
Synopsis
brain : pigmented cytoplasmic granules in neurons and accumulation of lamellated membrane structures in lysosomes
stomach: cytoplasmic vacuolization of parietal cells
Ultrastructure
lysosomal inclusions in gastric parietal cells
Animals models
Mouse: #17924347#
Reviews
Slaugenhaupt SA. The molecular basis of mucolipidosis type IV. Curr Mol (...) -
GRACILE syndrome
27 October 2003Definition: GRACILE (growth retardation, aminoaciduria, cholestasis, iron overload, lactacidosis, and early death) syndrome is a recessively inherited lethal disease characterized by fetal growth retardation, lactic acidosis, aminoaciduria, cholestasis, and abnormalities in iron metabolism.
Etiology
mutation in BCS1L gene (2q33-37) -
CDG2C
28 November 2007leukocyte adhesion deficiency type 2 (LAD2)
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pulmonary Hurler disease
14 March 2011Lung 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 (...) -
Alpers syndrome
19 June 2005Definition: Alpers syndrome is usually characterized by a clinical triad of psychomotor retardation, intractable epilepsy, and liver failure in infants and young children.
The illness usually begins in early life with convulsions. A progressive neurologic disorder characterized by spasticity, myoclonus, and dementia ensues. Status epilepticus is often the terminating development. Definitive diagnosis is shown by postmortem examination of the brain and liver.
Alpers syndrome can be caused (...) -
peroxisomal acyl-CoA-oxidase deficiency
26 May 2009References
Peroxisomal acyl-CoA-oxidase deficiency: two new cases. Carrozzo R, Bellini C, Lucioli S, Deodato F, Cassandrini D, Cassanello M, Caruso U, Rizzo C, Rizza T, Napolitano ML, Wanders RJ, Jakobs C, Bruno C, Santorelli FM, Dionisi-Vici C, Bonioli E. Am J Med Genet A. 2008 Jul 1;146A(13):1676-81. PMID: #18536048#