Alphabetic Listing of Disease Discussion Pages
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A
Acute Intermittent Porphyria, AIP: heme biosynthesis disorderALA dehydratase deficient porphyria, ADP: heme biosynthesis disorder
Alkaptonuria: defective phenylalanine and tyrosine catabolism
Andersen Disease: glycogen storage disease type 4
Angelman syndrome, AS: genetic imprinting disease
Arginase deficiency: urea cycle disorder
Argininosuccinate lyase deficiency, ALD: urea cycle disorder
Argininosuccinate synthetase deficiency, ASD: urea cycle disorder
Aspartylglucosaminuria: glycoprotein degradation disease (a lysosomal storage disease of the oligosaccharidosis family)
Ataxia telangiectasia, AT: defective DNA repair disorders
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B
Beckwith-Wiedemann syndrome, BWS: genetic imprinting diseaseBernard-Soulier syndrome: blood coagulation defect (also called giant platelet syndrome)
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C
Carbamoylphosphate synthetase deficiency: urea cycle disorderCongenital Adrenal Hyperplasiaa: adrenal steroid hormone synthesis disorders
Congenital disorders of glycosylation: defective N-linked and O-linked glycoprotein synthesis
Congenital erythropoietic porphyria, CEP: heme biosynthesis disorder
Cori disease: glycogen storage disease type 3 (also called Forbes disease)
Crigler-Najjar syndromes: disorders of bilirubin metabolism
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D
Dentatorubro-Pallidoluysian atrophy, DRPLA: trinucleotide repeat expansion disorder of the polyglutamine familyDubin-Johnson syndrome: disorder of bilirubin metabolism
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E
Ehlers-Danlos syndrome, EDS: disease of defective collagen metabolismErythropoietic protoporphyria, EPP: heme biosynthesis disorder
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F
Fabry disease: glycolipid degradation disease (a lysosomal storage disease of the sphingolipidosis family)Factor X deficiency: blood coagulation defect
Factor XI deficiency: blood coagulation defect, also called Rosenthal syndrome or plasma thromboplastin antecedent (PTA) deficiency
Factor XII deficiency: blood coagulation defect, also called Hageman factor deficiency
Factor XIII deficiency: blood coagulation defect
Familial hypercholesterolemia, FH: defective LDL receptor function
Farber lipogranulomatosis: glycolipid degradation disease (a lysosomal storage disease of the sphingolipidosis family)
Forbes disease: glycogen storage disease type 3 (also called Cori disease)
Fragile X syndrome: trinucleotide repeat expansion disorder of the non-polyglutamine family
Fragile XE mental retardation: trinucleotide repeat expansion disorder of the non-polyglutamine family
Friedreich ataxia: trinucleotide repeat expansion disorder of the non-polyglutamine family; also considered a disorder of oxidative phosphorylation
Fucosidosis: glycoprotein degradation disease (a lysosomal storage disease of the oligosaccharidosis family)
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G
Galactosialidosis: also called Goldberg syndrome; glycoprotein degradation disease (a lysosomal storage disease of the oligosaccharidosis family)Gaucher disease: (pronounced "go shea"), glycolipid degradation disease (a lysosomal storage disease of the sphingolipidosis family)
Giant platelet syndrome: blood coagulation defect (also called Bernard-Soulier syndrome)
Gilbert syndrome: disorder of bilirubin metabolism
Glanzmann thrombasthenia: blood coagulation defect
Glucose-6-phosphate dehydrogenase deficiency
Glycogen storage disease type 1: also called von Gierke disease
Glycogen storage disease type 2: also called Pompe disease
Glycogen storage disease type 3: also called Cori disease or Forbes disease
Glycogen storage disease type 4: also called Andersen disease
Glycogen storage disease type 5: also called McArdle disease
GM1 gangliosidosis: glycolipid degradation disease (a lysosomal storage disease of the sphingolipidosis family)
GM2 activator deficiency: glycolipid degradation disease (a lysosomal storage disease of the sphingolipidosis family)
Goldberg syndrome: also called galactosialidosis; glycoprotein degradation disease (a lysosomal storage disease of the oligosaccharidosis family)
Gout: hyperuricemia due to defective purine nucleotide metabolism
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H
Hageman factor deficiency: blood coagulation defect, also called factor XII deficiencyHereditary coproporphyria, HCP: heme biosynthesis disorder
Hemochromatosis: defective iron homeostasis
Hemophilia A: blood coagulation defect
Hemophilia B: blood coagulation defect
Hunter syndrome: a lysosomal storage disease of the mucopolysaccharidosis (MPS) family; MPS type II
Huntington disease, HD: trinucleotide repeat expansion disorder of the polyglutamine family
Hurler and Scheie syndromes: lysosomal storage diseases of the mucopolysaccharidosis (MPS) family; MPS type I
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I
Imprinted diseases: diseases due to genetic imprinting; includes Prader-Willi syndrome, Angelman syndrome, and Beckwith-Weidemann syndromeInfantile Refsum disease: peroxisome biogenesis defect
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K
Krabbe disease: glycolipid degradation disease (a lysosomal storage disease of the sphingolipidosis family)back to the top
L
Lesch-Nyhan syndrome, LNS: defective purine nucleotide metabolismback to the top
M
α-Mannosidosis: glycoprotein degradation disease (a lysosomal storage disease of the oligosaccharidosis family)β-Mannosidosis: glycoprotein degradation disease (a lysosomal storage disease of the oligosaccharidosis family)
Maple syrup urine disease, MSUD: defective branched-chain amino acid degradation
Marfan syndrome: defective connective tissue biogenesis
Maroteaux-Lamy syndrome: a lysosomal storage disease of the mucopolysaccharidosis (MPS) family; MPS type VI
McArdle disease: glycogen storage disease type 5
Menkes disease: defective copper homeostasis
Metachromatic leukodystrophy, MLD: glycolipid degradation disease (a lysosomal storage disease of the sphingolipidosis family)
Morquio syndromes: lysosomal storage diseases of the mucopolysaccharidosis (MPS) family; MPS types IVA and IVB
Mucolipidosis type I: (also called sialidosis) lysosomal enzyme transport defect; a lysosomal storage disease of the mucolipidosis family
Mucopolysaccharidosis type I: lysosomal storage disease of the mucopolysaccharidosis (MPS) family, also called Hurler, Hurler-Scheie, and Scheie syndromes
Mucopolysaccharidosis type II: lysosomal storage disease of the mucopolysaccharidosis (MPS) family, also called Hunter syndrome
Mucopolysaccharidosis type IIIA, IIIB, IIIC, and IIID: lysosomal storage disease of the mucopolysaccharidosis (MPS) faminly, also called Sanfillipo syndromes
Mucopolysaccharidosis type IVA and IVB: lysosomal storage disease of the mucopolysaccharidosis (MPS) family, also called Morquio syndromes
Mucopolysaccharidosis type VI: lysosomal storage disease of the mucopolysaccharidosis (MPS) family, also called Maroteaux-Lamy syndrome
Mucopolysaccharidosis type VII: lysosomal storage disease of the mucopolysaccharidosis (MPS) family, also called Sly syndrome
Myotonic dystrophy, DM: trinucleotide repeat expansion disorder of the non-polyglutamine family (the designation DM refers to the Latin name dystrophia myotonica)
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N
Neonatal adrenoleukodystrophy, NALD: peroxisome biogenesis defectNiemann-Pick diseases, NPD: Type A and B are glycolipid degradation diseases (lysosomal storage diseases of the sphingolipidosis family); type C is due to a defect in cholesterol homeostasis
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O
Ornithine transcarbamoylase deficiency, OTCD: urea cycle disorderOsteogenesis imperfecta, OI: family of diseases caused y defective collagen biogenesis
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P
Plasma thromboplastin antecendent (PTA) deficiency: blood coagulation defect, also called Rosenthal syndrome or factor XI deficiencyPhenylketonuria, PKU: hyperphenylalaninemia due to defective phenylalanine hydroxylase
Pompe disease: glycogen storage disease type 2
Porphyria cutanea tarda, PCT: heme biosynthesis disorder
Prader-Willi syndrome, PWS: genetic imprinting disease
Protein C deficiency: blood coagulation disorder
Pyruvate kinase deficiency of erythrocytes: non-spherocytic hemolytic anemia
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R
Refsum disease: defective α-oxidation of phytanic acidRhizomelic chondrodysplasia punctata, tpye 1 (RCDP1): peroxisome biogenesis defect
Rosenthal syndrome: blood coagulation defect, also called Factor XI deficiency or plasma thromboplastin antecedent (PTA) deficiency
Rotor syndrome: disorder of bilirubin metabolism
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S
Sandhoff disease: glycolipid degradation disease (a lysosomal storage disease of the sphingolipidosis family)Sanfilippo syndromes: lysosomal storage diseases of the mucopolysaccharidosis (MPS) family; MPS types IIIA, IIIB, IIIC, and IIID
Severe combined immunodeficiency, SCID: defective purine nucleotide metabolism
Sialidosis: lysosomal enzyme transport defect (a lysosomal storage disease of the mucolipidosis family)
Sickle cell anemia: defective hemoglobin biogenesis
Sly syndrome: a lysosomal storage disease of the mucopolysaccharidosis (MPS) family; MPS type VI
Smith-Lemli-Opitz syndrome, SLOS: defective cholesterol homeostasis
Spinobulbar muscular atrophy, SBMA: trinucleotide repeat expansion disorder of the polyglutamine family
Spinocerebellar ataxias, SCAs: trinucleotide repeat expansion disorders; at least 8 types (6 of the polyglutamine family and 2 of the non-polyglutamine family)
Sulfatide lipidosis: (also called Metachromatic leukodystrophy); glycolipid degradation disease (a lysosomal storage disease of the sphingolipidosis family)
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T
Tangier disease: defective cholesterol homeostasisTay-Sachs disease: glycolipid degradation disease (a lysosomal storage disease of the sphingolipidosis family)
α-Thalassemia: hemoglobin disorder
β-Thalassemia: hemoglobin disorder
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V
von Gierke disease: glycogen storage disease type 1 (types 1a, 1b, and 1c included)Variegate porphyria, VP: heme biosynthesis disorder
von Willebrand disease, VWD: blood coagulation defect
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W
Wilson disease: disorder of copper homeostasisback to the top
X
X-linked adrenoleukodystrophy, X-ALD: peroxisome biogenesis defectX-linked sideroblastic anemia, XLSA: heme biosynthesis disease due to defective erythroid-specific ALA synthase (ALAS2)
Xeroderma pigmentosum, XP: disorder of DNA repair
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Z
Zellweger syndrome: peroxisome biogenesis defectback to the top
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