Alphabetic Listing of Disease Discussion Pages
Acute Intermittent Porphyria, AIP: heme biosynthesis disorder
ALA 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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Beckwith-Wiedemann syndrome, BWS: genetic imprinting disease
Bernard-Soulier syndrome: blood coagulation defect (also called giant platelet syndrome)
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Carbamoylphosphate synthetase deficiency: urea cycle disorder
Congenital 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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Dentatorubro-Pallidoluysian atrophy, DRPLA: trinucleotide repeat expansion disorder of the polyglutamine family
Dubin-Johnson syndrome: disorder of bilirubin metabolism
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Ehlers-Danlos syndrome, EDS: disease of defective collagen metabolism
Erythropoietic protoporphyria, EPP: heme biosynthesis disorder
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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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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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Hageman factor deficiency: blood coagulation defect, also called factor XII deficiency
Hereditary 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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Imprinted diseases: diseases due to genetic imprinting; includes Prader-Willi syndrome, Angelman syndrome, and Beckwith-Weidemann syndrome
Infantile Refsum disease: peroxisome biogenesis defect
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Krabbe disease: glycolipid degradation disease (a lysosomal storage disease of the sphingolipidosis family)
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Lesch-Nyhan syndrome, LNS: defective purine nucleotide metabolism
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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) faminly, also called Hurler, Hurler-Scheie, and Scheie syndromes
Mucopolysaccharidosis type II: lysosomal storage disease of the mucopolysaccharidosis (MPS) faminly, 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) faminly, also called Morquio syndromes
Mucopolysaccharidosis type VI: lysosomal storage disease of the mucopolysaccharidosis (MPS) faminly, also called Maroteaux-Lamy syndrome
Mucopolysaccharidosis type VII: lysosomal storage disease of the mucopolysaccharidosis (MPS) faminly, 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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Neonatal adrenoleukodystrophy, NALD: peroxisome biogenesis defect
Niemann-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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Ornithine transcarbamoylase deficiency, OTCD: urea cycle disorder
Osteogenesis imperfecta, OI: family of diseases caused y defective collagen biogenesis
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Plasma thromboplastin antecendent (PTA) deficiency: blood coagulation defect, also called Rosenthal syndrome or factor XI deficiency
Phenylketonuria, 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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Refsum disease: defective α-oxidation of phytanic acid
Rhizomelic 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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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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Tangier disease: defective cholesterol homeostasis
Tay-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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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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Wilson disease: disorder of copper homeostasis
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X-linked adrenoleukodystrophy, X-ALD: peroxisome biogenesis defect
X-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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Zellweger syndrome: peroxisome biogenesis defect
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Michael
W. King, Ph.D / IU School of Medicine / miking at iupui.edu
Last modified: February 2, 2010
