Skin Conditions Resulting from Errors in Metabolism
29 entries in the Skin Conditions Resulting from Errors in Metabolism compendium.
AmyloidosisA group of protein misfolding diseases causing amyloid buildup in tissues.Anderson–Fabry diseaseA rare X-linked lysosomal storage disease with multisystem involvement.Angiokeratoma corporis diffusumA rare X-linked lysosomal storage disease with multisystem involvement.Broad beta diseaseA lipid disorder causing palm xanthomas and early heart disease.Calcinosis cutisCalcium deposits in skin and subcutaneous tissue, with five recognized types.CarotenodermaOrange skin discoloration from excess dietary carotenoids, harmless and reversible.Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy syndromeMost common hereditary stroke disorder from NOTCH3 mutations.Cerebrotendinous xanthomatosisRare bile acid disorder causing neurological issues, cataracts, and tendon xanthomas.ChylomicronemiaA condition of severe hypertriglyceridemia due to defective chylomicron breakdown.Chylomicronemia syndromeSevere hypertriglyceridemia from defective chylomicron clearance.CitrullinemiaA urea cycle disorder causing toxic ammonia buildup.Congenital erythropoietic porphyriaA rare porphyria causing severe photosensitivity and erythrodontia.Diabetic cheiroarthropathyWaxy, thickened skin and limited finger joint mobility in diabetes.Doss porphyriaAn extremely rare hepatic porphyria from ALAD deficiency.Erythropoietic porphyriaA porphyria with enzyme deficiency in red blood cells.Erythropoietic protoporphyriaA painful photosensitivity disorder from defective heme synthesis.Fabry diseaseA rare X-linked lysosomal storage disease with multisystem involvement.Familial alpha-lipoprotein deficiencyRare disorder causing severe HDL deficiency and cholesterol buildup.Familial amyloid polyneuropathyAn inherited neurodegenerative disease caused by transthyretin protein misfolding.Familial Amyloidosis, Finnish TypeAmyloidosis from mutated plasma gelsolin, primarily in Finland.Familial combined hyperlipidemiaA common inherited lipid disorder raising LDL and triglycerides.Familial dysbetalipoproteinemiaA lipid disorder causing xanthomas and early heart disease.Familial hypertriglyceridemiaA genetic disorder of elevated triglycerides due to VLDL overproduction.Farber diseaseRare lysosomal storage disease from acid ceramidase deficiency.Fibrocytic dysmucopolysaccharidosisA rare lysosomal storage disease from acid ceramidase deficiency.FucosidosisA fatal lysosomal storage disorder from alpha-L-fucosidase deficiency.GargoylismA severe lysosomal storage disease causing early death.Gaucher's diseaseA lysosomal storage disease from glucocerebroside accumulation.Gunther diseaseA rare congenital porphyria causing severe photosensitivity and hemolytic anemia.
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