Alphabetic Listing of Disease Discussion Pages


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A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

A

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

 

 

 

 

 

 

 

 

 

 

 

Addison Disease: adrenal insufficiency syndrome

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 disease

Bernard-Soulier syndrome: blood coagulation defect (also called giant platelet syndrome)

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C

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

Cushing Syndrome: hypercortisolemia

Cushing Disease: pituitary-dependent cause of Cushing Syndrome

Cystinuria: urinary cystine reabsorption defect

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D

Dentatorubro-Pallidoluysian atrophy, DRPLA: trinucleotide repeat expansion disorder of the polyglutamine family

Dubin-Johnson syndrome: disorder of bilirubin metabolism

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E

Ehlers-Danlos syndrome, EDS: disease of defective collagen metabolism

Erythropoietic 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

GLUT1 deficiency syndrome

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

Graves disease: autoimmune hyperthyroidism

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H

Hageman factor deficiency: blood coagulation defect, also called factor XII deficiency

Hartnup disorder: intestinal neutral amino acid absorption defect

Hereditary coproporphyria, HCP: heme biosynthesis disorder

Hemochromatosis: defective iron homeostasis

Hemophilia A: blood coagulation defect

Hemophilia B: blood coagulation defect

Homocystinuria: multiple causes of elevated blood and urine homosysteine/homocystine

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

Hyperammonemia-hyperornithinemia-homocitrullinuria (HHH) Syndrome: amino acid transporter defect

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I

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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K

Krabbe disease: glycolipid degradation disease (a lysosomal storage disease of the sphingolipidosis family)

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L

Lesch-Nyhan syndrome, LNS: defective purine nucleotide metabolism

Lysinuric Protein Intolerance: cationic amino acid transport defect

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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 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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O

Ornithine transcarbamoylase deficiency, OTCD: urea cycle disorder

Osteogenesis 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 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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R

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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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 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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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 homeostasis

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X

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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Z

Zellweger syndrome: peroxisome biogenesis defect


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Michael W King, PhD | © 1996–2017 themedicalbiochemistrypage.org, LLC | info @ themedicalbiochemistrypage.org

Last modified: April 25, 2017