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Metabolic disease
Metabolic pathway
Articles
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cerebrotendinous xanthomatosis
28 February 2006 -
Sandhoff disease
4 June 2006Definition: Sandhoff disease, also called Hexosaminidase A and B deficiency, is an autosomal recessive lipid storage disease that causes progressive destruction of nerve cells in the brain and spinal cord.
Sandhoff disease is a progressive neurodegenerative disorder characterized by an accumulation of GM2 gangliosides (GM2-gangliosidosis), particularly in neurons, and is clinically indistinguishable from Tay-Sachs disease (MIM.272800).
Sandhoff disease is caused by mutation in the alpha (...) -
lysinuric protein intolerance
25 January 2006LPI, lysinuric dibasic protein intolerance
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glycogen storage disease type 2
29 May 2007GSD2, Pompe disease, type II glycogenosis, glycogenosis type 2
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d-2-hydroxyglutaric aciduria
18 January 2005d-2-hydroxyglutaric aciduria is a neurometabolic disorder with both a mild and a severe phenotype and with unknown etiology.
Etiology
germline mutations in the d-2-hydroxyglutarate dehydrogenase gene -
lethal neonatal CPT deficiency type 2
17 March 2005Autosomal recessive metabolic disease.
Synopsis
craniofacial anomalies
Microcephaly
High, sloping forehead
Prominent forehead
Cararacts
Overfolded helices
Low-set ears
Posteriorly-rotated ears
Bulbous nose
High-arched palate
Narrow palate
cardiovascular anomalies
Cardiomegaly
Dilated cardiomyopathy
Thickened myocardium
Arrhythmias
Sudden death within first days of life
Lipid accumulation in heart
Respiratory distress
Apnea
Respiratory failure (...) -
glycogen storage disease type 3
9 February 2006glycogenosis type 3, glycogen storage disease type III, Forbes disease, limit dextrinosis, GSD type 3, Cori disease, Cori’s disease
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cblC type of combined methylmalonic aciduria and homocystinuria
2 February 2006cobalamine deficiency type C; cblC type cobalamine deficiency
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multiple acyl-CoA dehydrogenation deficiency
18 March 2005MADD, glutaric aciduria type 2
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arylsulfatase deficiency type metachromatic leokodystrophy
29 November 2007Deficiency: Arylsulfatase deficiency is one three allelic types of metachromatic deficiencies.
Clinical synopsis
urinary incontinence
mental deterioration
loss of speech
hypotonia
muscle weakness
hait disturbances
hyporeflexia (early)
dysarthria
dystonia
chorea
ataxia
spastic tetraplegia
hyperreflexia (later)
extensor plantar responses (later)
seizures
bulbar palsies
progression to tetraplegia and decerebrate state
cerebral white matter abnormalities (...)
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