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Urea Cycle Disorders
Urea cycle disorders
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Inborn errors of metabolism
(106)
2-Methylbutyryl-CoA dehydrogenase deficiency
3 methylcrotonyl-coa carboxylase deficiency
ASL deficiency
Arginase deficiency
Argininosuccinic aciduria
Argininosuccinic aciduria
Arias syndrome
Citrullinuria
Galactosemias
Glutaric acidemia type 1
Leukodystrophy, globoid cell
Maple syrup urine disease
Metabolic diseases
N-acetylglutamate synthetase deficiency
Newborn screening
Ornithine transcarbamylase deficiency
Ornithine translocase deficiency
Phenylketonuria
Type I tyrosinemia
2,4 Dienoyl-CoA reductase deficiency
3-hydroxy-- 3-methylglutaryl-CoA lyase deficiency
3-hydroxya- cyl-coenzyme A dehydrogenase deficiency
Acatalasia
Acid lipase disease
Adenosine deaminase deficiency
Aldolase A deficiency
Analbuminaemia
Arakawa's syndrome II
Aspartylgl- ucosaminuria
Beta-ketothiolase deficiency
Carbamoyl phosphate synthetase I deficiency
Carnitine palmitoylt- ransferase I deficiency
Carnitine palmitoylt- ransferase II deficiency
Carnitine-- acylcarnitine translocase deficiency
Cholesteryl ester storage disease
Congenital disorder of glycosylation
D-Glyceric acidemia
DOOR syndrome
Dihydropyrimidine dehydrogenase deficiency
Disaccharidase
Essential fructosuria
Fucosidosis
Fumarase deficiency
Galactose-- 1-phosphate uridylyltransferase galactosemia
Glucose-galactose malabsorption
Glutaric acidemia type 2
Glycogen storage disease
Glycogen storage disease type I
Glycogen storage disease type II
Glycogen storage disease type III
Glycogen storage disease type V
Guanidinoacetate methyltransferase deficiency
Hawkinsinuria
Hereditary fructose intolerance
Histidinemia
Holocarboxylase synthetase deficiency
Hyperlysinemia
Hypermethioninemia
Hyperprolinemia
Hypervalinemia
Idiosyncrasy
Inborn error of lipid metabolism
Isobutyryl-coenzyme A dehydrogenase deficiency
Isovaleric acidemia
Lecithin cholesterol acyltransferase deficiency
Lesch–Nyhan syndrome
Lipid storage disorder
Lipid storage disorders
Long-chain 3-hydroxya- cyl-coenzyme A dehydrogenase deficiency
Lysinuric protein intolerance
Lysosomal storage disease
Lysosomal storage diseases
Malonyl-CoA decarboxylase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency
Menkes disease
Metab-L
Methylmalonic acidemia
Methylmalonyl-CoA mutase deficiency
Mevalonate kinase deficiency
Mitochondrial trifunctional protein deficiency
Myoadenylate deaminase deficiency
Niemann-Pick disease, type C
Organic acidemia
Primary carnitine deficiency
Prolidase deficiency
Propionic acidemia
Pyruvate carboxylase deficiency
Pyruvate kinase deficiency
Refsum's disease
Rotor syndrome
Sarcosinemia
Schindler disease
Short-chain acyl-coenzyme A dehydrogenase deficiency
Sly syndrome
Smith-Lemli-Opitz syndrome
Succinic semialdehyde dehydrogenase deficiency
Tangier disease
Tetrahydrobiopterin deficiency
Trimethylaminuria
Type III tyrosinemia
Tyrosinemia
Tyrosinemia type II
Urocanic aciduria
Very long-chain acyl-coenzyme A dehydrogenase deficiency
Wolman disease
X-linked ichthyosis
Zellweger syndrome
more...
Metabolic disorders
(59)
Gangliosidoses gm2
Homocystinuria
Activated protein C resistance
Adenosine deaminase deficiency
Albinism
Albinism
Alcohol flush reaction
Antithrombin III deficiency
Arias syndrome
Baker IDI Heart and Diabetes Institute
Blue diaper syndrome
Childhood obesity
Congenital disorder of glycosylation
Congenital hyperinsulinism
Diagnostic fast
Disaccharidase
Disorders of calcium metabolism
Ectopic calcification
Farber disease
Fructose malabsorption
GM1 gangliosidoses
Galactosemias
Galactosemic cataract
Gangliosidosis
Gaucher's disease
Glycogen storage disease type 0
Hereditary fructose intolerance
Hyperglycemia
Hyperinsulinemic hypoglycemia
Hyperinsulinism
Hypoglycemia
Inborn errors of metabolism
Ketotic hypoglycemia
Lactose intolerance
Leukodystrophy, globoid cell
Lipid storage disorders
List of causes of hypoglycemia
Metab-L
Methemoglobinemia
Neuronal ceroid lipofuscinosis
Niemann-Pick disease, type C
Niemann–Pick disease
Obesity
Obesogen
Pickardt syndrome
Pycnodysostosis
Refeeding syndrome
Richner Hanhart syndrome
Rotor syndrome
Salicylate sensitivity
Schindler disease
Selfish Brain Theory
Sitosterolemia
Stress hyperglycemia
Sucrose intolerance
Tay-Sachs disease
Triosephosphate isomerase deficiency
Urbach–Wiethe disease
Winchester syndrome
Wolman disease
more...
Genetic disorders
(24)
Adynamia Episodica Hereditaria
Hyperostosis, cortical, congenital
Adrenoleuk- odystrophy
Hereditary sensory and autonomic neuropathies
2-Hydroxyglutaric aciduria
2-Hydroxyglutaric aciduria
6-pyruvoyl- tetrahydropterin synthase deficiency
Arginase deficiency
Ornithine transcarbamylase deficiency
Citrullinuria
Maple syrup urine disease
N-acetylglutamate synthetase deficiency
Argininosuccinic aciduria
Homocystinuria
ASL deficiency
Leukodystrophy, globoid cell
Ornithine translocase deficiency
Gangliosidoses gm2
Galactosemias
Type I tyrosinemia
Arias syndrome
Glutaric acidemia type 1
3 methylcrotonyl-coa carboxylase deficiency
2-Methylbutyryl-CoA dehydrogenase deficiency
Phenylketonuria
more...
Diseases and disorders
(50)
Actinomycosis
Hyperammonemia
Adrenal insufficiency
Rhumatic fever
N-acetyl glutamate synthetase deficiency
N-acetyl glutamate synthetase deficiency
Ornithine transcarbamylase
Uric acid kidney stones
Undulant fever
Anemia, iron-deficiency
Urinary tract infection
Uremia
Acute cerebellar ataxia
Glossopharyngeal nerve diseases
Reye syndrome
Purpura, schoenlein-henoch
Type i complex regional pain syndrome
Myopathies, structural, congenital
Enterocolitis, pseudomembranous
Physiologic nystagmus
Fetofetal transfusion
Histiocytosis non-langerhans-cell
Lupus erythematosus, cutaneous
Polyendocr- inopathies, autoimmune
Postpoliomyelitis syndrome
Encephalitis, arbovirus
Olfaction disorders
Encephalopathy
Intervertebral disk displacement
Rosenthal syndrome
Gianotti–Crosti syndrome
Brachial plexus neuropathies
Aminoacidopathies
Adynamia Episodica Hereditaria
Metabolic disorders
Arginase deficiency
Ornithine transcarbamylase deficiency
Citrullinuria
Metabolic diseases
Maple syrup urine disease
Argininosuccinic aciduria
Homocystinuria
ASL deficiency
Leukodystrophy, globoid cell
Hyperostosis, cortical, congenital
Gangliosidoses gm2
Hereditary sensory and autonomic neuropathies
Galactosemias
2-Hydroxyglutaric aciduria
Phenylketonuria
6-pyruvoyl- tetrahydropterin synthase deficiency
more...
Bacterial diseases
Actinomycosis
Rhumatic fever
Undulant fever
Enterocolitis, pseudomembranous
Endocrinology
Androblastoma
Adrenal insufficiency
Polyendocr- inopathies, autoimmune
Metabolism
Amino acid metabolism
Metabolic network
Metabolic disorders
Metabolic diseases
Basic amino acids
Argininosuccinic acid
Ornithine
Arginine
Histidine
Lysine
Methyllysine
Biochemistry
Phenylacet- ylglutamine
N-acetylglutamate
Biochemical genetics
Metabolism
See also
(20)
Urea cycle
Amebic liver abscess
Aminophylline
Airway obstruction
Urgent need to urinate
Urgent need to urinate
Adenocarcinoma
Uncal herniation
Abscess
Uvulitis
Retroversion
Carbamyl phosphate synthetase
Argininosuccinic acid synthetase
Argininosuccinate lyase
Chemical substances
Urinary hesitancy
Ucyclyd Pharma
Buphenyl
Sodium phenylacetate
Carbamyl phosphate
Divalproex
more...
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