Pseudo-Hurler polydystrophy Classification & external resources
Pseudo-Hurler polydystrophy, also referred to as mucolipidosis III (ML III), is lysosomal storage disease closely related to I-cell disease (ML II). Symptoms of ML III are often not noticed until the child is 3-5 years of age.
Additional recommended knowledge
As in ML II, ML III results from genetic defects in GlcNAc phosphotransferase (N-acetylglucosamine-1-phosphotransferase). However, ML III produces less severe symptoms and progresses more slowly, probably because the defect in GlcNAc phosphotranspherase lies in its protein recognition domain.
Therefore, the catalytic domain retains some of its activity, resulting in a smaller accumulation of carbohydrates, lipids, and proteins in the inclusion bodies.
Patients with ML III are generally of normal intelligence (trait) or have only mild mental retardation. These patients usually have skeletal abnormalities, coarse facial features, short height, and corneal clouding. Some individuals with ML III survive until their fourth or fifth decade of life.
Murray, R, Granner, D, and Rodwell, V. (2006). Harper's Illustrated Biochemistry. 27 ^ th ed. New York: Lange Medical Books/McGraw-Hill.
mucolipidoses at NINDS - original text of article derived from detail sheet available here
Metabolic pathology / Inborn error of metabolism ( E70-90, 270-279) Amino acid Aromatic ( Phenylketonuria, Alkaptonuria, Ochronosis, Tyrosinemia, Albinism, Histidinemia) - ( Organic acidemias 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 - Hyperprolinemia - 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) Fatty acid metabolism Lipoprotein/lipidemias: Hyperlipidemia - Hypercholesterolemia - Familial hypercholesterolemia - Xanthoma - Combined hyperlipidemia - Lecithin cholesterol acyltransferase deficiency - Tangier disease - Abetalipoproteinemia
Fatty acid: Adrenoleukodystrophy - Acyl-coA dehydrogenase ( Short-chain, Medium-chain, Long-chain 3-hydroxy, Very long-chain) - ( Carnitine Primary, I, II) Mineral Cu Wilson's disease/ Menkes disease - Fe Haemochromatosis - Zn Acrodermatitis enteropathica - PO 4 3�' Hypophosphatemia/ Hypophosphatasia - Mg 2+ Hypermagnesemia/ Hypomagnesemia - Ca 2+ 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 - H 2O 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 ( Lucey-Driscoll syndrome, 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