Histidinemia Classification & external resources
Histidine
ICD -10
E 70.8
ICD -9
270.5
OMIM
235800
DiseasesDB
29669
Histidinemia , also referred to as histidinuria , is a rare autosomal recessive metabolic disorder caused by a deficiency of the enzyme histidase. Histidase is needed for the metabolism of the amino acid histidine .[1]
Additional recommended knowledge
Diagnosis and symptoms
Histidenemia is characterized by increased levels of histidine, histamine and imidazole in blood , urine and cerebrospinal fluid . This also results in decreased levels of the metabolite urocanic acid in blood, urine, and skin cells .[1]
Though it may remain asymptomatic for a few years, symptoms will usually present by early childhood. Common symptoms include hyperactivity , speech impediment, developmental delay, learning difficulties, and sometimes mental retardation .
Prevalence
Histidinemia is a somewhat rare disorder. However, in Japan, it is the single most prevalent inborn error of metabolism .[2]
See also
References
^ a b Taylor RG, Levi HL, McInnes RR (1991). "Histidase and histidinemia. Clinical and molecular considerations". Mol Bio Med. 8 (1): 101-116. PMID 1943682.
^ Kawai Y, Moriyama A, Asai K, Coleman-Campbell CM, Morishita H, Suchi M (2005). "Molecular characterization of histidinemia: identification of four missense mutations in the histidase gene". Hum Genet. 116 (5): 340-346. PMID 15806399.
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 - PO4 3− Hypophosphatemia/Hypophosphatasia - Mg2+ Hypermagnesemia /Hypomagnesemia - Ca2+ Hypercalcaemia /Hypocalcaemia /Disorders of calcium metabolism Fluid, electrolyte Electrolyte disturbance - Na+ Hypernatremia /Hyponatremia - Acidosis (Metabolic , Respiratory , Lactic) - Alkalosis (Metabolic , Respiratory ) - Mixed disorder of acid-base balance - H2 O Dehydration /Hypervolemia - K+ Hypokalemia /Hyperkalemia - Cl− Hyperchloremia/HypochloremiaPurine 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
