Acatalasia (or Takahara's disease) is a peroxisomal disorder
caused by a complete lack of catalase. The only apparent abnormality in these people is an
increased incidence of periodontal infections. This is NOT a serious
disease.[citation needed]
History
In 1948 , Dr.Shigeo Takahara (1908-1994), a Japanese otolaryngologist
reported the new disease; to this day it is really only reported within families in Japan.
[citation needed] He had examined a patient with an
oral ulcer. He had spread hydrogen peroxide on the
diseased part, but oxygen was not generated due to the lack of catalase.
|
Metabolic pathology
/ Inborn error of metabolism (E70-90, 270-279) |
| Amino acid |
Aromatic
(Phenylketonuria, Alkaptonuria, Ochronosis, Tyrosinemia, Albinism,
Histidinemia) - Branched chain
(Maple syrup urine disease, Propionic
acidemia, Methylmalonic acidemia, Isovaleric acidemia, 3-Methylcrotonyl-CoA carboxylase deficiency) - Transport
(Cystinuria, Cystinosis, Hartnup disease, Fanconi syndrome, Oculocerebrorenal syndrome) - Sulfur (Homocystinuria, Cystathioninuria) - Urea cycle disorder (N-Acetylglutamate
synthase deficiency, Carbamoyl phosphate synthetase I
deficiency, Ornithine transcarbamylase deficiency,
Citrullinemia, Argininosuccinic
aciduria, Hyperammonemia) - Glutaric
acidemia type 1 - Sarcosinemia |
| Carbohydrate |
Lactose intolerance - Glycogen storage disease
(type I, type
II, type III, type IV, type V,
type VI, type
VII) - fructose metabolism (Fructose intolerance,
Fructose bisphosphatase deficiency, Essential fructosuria) - galactose metabolism (Galactosemia, Galactose-1-phosphate uridylyltransferase galactosemia,
Galactokinase deficiency) - other intestinal carbohydrate absorption
(Glucose-galactose malabsorption, Sucrose intolerance) - pyruvate metabolism and gluconeogenesis (PCD, PDHA) - Pentosuria - Renal glycosuria |
| Lipid
storage |
Sphingolipidoses/Gangliosidoses: GM2 gangliosidoses (Sandhoff disease, Tay-Sachs disease) - GM1 gangliosidoses - Mucolipidosis type IV - Gaucher's disease -
Niemann-Pick disease - Farber disease -
Fabry's disease - Metachromatic
leukodystrophy - Krabbe disease
Neuronal ceroid lipofuscinosis (Batten
disease) - Cerebrotendineous xanthomatosis - Cholesteryl ester storage disease (Wolman
disease) |
| Other lipid |
Lipoprotein/lipidemias:
Hyperlipidemia - Hypercholesterolemia -
Familial hypercholesterolemia - Xanthoma
- Combined hyperlipidemia - Lecithin cholesterol acyltransferase deficiency - Tangier disease - Abetalipoproteinemia
Fatty acid: Adrenoleukodystrophy - Carnitine (Primary, I, II) |
| Mineral |
Cu Wilson's
disease/Menkes disease - Fe Haemochromatosis - Zn Acrodermatitis
enteropathica - PO43− Hypophosphatemia/Hypophosphatasia - Mg2+
Hypermagnesemia/Hypomagnesemia -
Ca2+ Hypercalcaemia/Hypocalcaemia/Disorders of calcium
metabolism |
Fluid, electrolyte
and acid-base balance |
Electrolyte disturbance - Na+ Hypernatremia/Hyponatremia - Acidosis (Metabolic, Respiratory, Lactic) - Alkalosis (Metabolic, Respiratory) - Mixed disorder of acid-base
balance - H2O Dehydration/Hypervolemia - K+ Hypokalemia/Hyperkalemia - Cl− Hyperchloremia/Hypochloremia |
| Purine and pyrimidine |
Hyperuricemia -
Lesch-Nyhan syndrome - Xanthinuria |
| Porphyrin |
Acute intermittent, Gunther's, Cutanea tarda, Erythropoietic,
Hepatoerythropoietic, Hereditary copro-, Variegate |
| Bilirubin |
Unconjugated (Gilbert's syndrome, Crigler-Najjar syndrome) -
Conjugated (Dubin-Johnson syndrome, Rotor
syndrome) |
| Glycosaminoglycan |
Mucopolysaccharidosis - 1:Hurler/Hunter - 3:Sanfilippo - 4:Morquio - 6:Maroteaux-Lamy - 7:Sly |
| Glycoprotein |
Mucolipidosis -
I-cell disease - Pseudo-Hurler
polydystrophy - Aspartylglucosaminuria - Fucosidosis - Alpha-mannosidosis - Sialidosis |
| Other |
Alpha 1-antitrypsin deficiency - Cystic fibrosis
- Amyloidosis (Familial Mediterranean
fever) - Acatalasia |
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