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Argininosuccinic Aciduria
Argininosuccinic aciduria
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Rare diseases
(10)
ASL deficiency
Alpha-mannosidosis
Aspartylgl- ucosaminuria
Newborn screening
2-Hydroxyglutaric aciduria
2-Hydroxyglutaric aciduria
Methylmalonic acidemia
Hartnup disease
Sarcosinemia
Beta-ketothiolase deficiency
Maple syrup urine disease
more...
Inborn errors of metabolism
(106)
2-Methylbutyryl-CoA dehydrogenase deficiency
3 methylcrotonyl-coa carboxylase deficiency
3-hydroxy-- 3-methylglutaryl-CoA lyase deficiency
Arginase deficiency
Carbamoyl phosphate synthetase I deficiency
Carbamoyl phosphate synthetase I deficiency
Citrullinemia
Glutaric acidemia type 1
Hawkinsinuria
Hypermethioninemia
Isobutyryl-CoA dehydrogenase deficiency
LCHAD
Metabolic disease
N-acetylglutamate synthase deficiency
Ornithine transcarbamylase deficiency
Phenylketonuria
Trifunctional protein deficiency
Type I tyrosinemia
Tyrosinemia
Tyrosinemia type II
Urea cycle disorders
Very long-chain acyl coenzyme A dehydrogenase deficiency
2,4 Dienoyl-CoA reductase deficiency
3-hydroxya- cyl-coenzyme A dehydrogenase deficiency
ASL deficiency
Acatalasia
Acid lipase disease
Adenosine deaminase deficiency
Aldolase A deficiency
Analbuminaemia
Arakawa's syndrome II
Aspartylgl- ucosaminuria
Beta-ketothiolase deficiency
Carnitine palmitoylt- ransferase I deficiency
Carnitine palmitoylt- ransferase II deficiency
Carnitine-- acylcarnitine translocase deficiency
Cholesteryl ester storage disease
Congenital disorder of glycosylation
Crigler-Najjar syndrome
D-Glyceric acidemia
DOOR syndrome
Dihydropyrimidine dehydrogenase deficiency
Disaccharidase
Essential fructosuria
Fucosidosis
Fumarase deficiency
Galactose-- 1-phosphate uridylyltransferase galactosemia
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
Hereditary fructose intolerance
Histidinemia
Holocarboxylase synthetase deficiency
Hyperlysinemia
Hyperprolinemia
Hypervalinemia
Idiosyncrasy
Inborn error of lipid metabolism
Isovaleric acidemia
Krabbe disease
Lecithin cholesterol acyltransferase deficiency
Lesch–Nyhan syndrome
Lipid storage disorder
Lipid storage disorders
Lysinuric protein intolerance
Lysosomal storage disease
Lysosomal storage diseases
Malonyl-CoA decarboxylase deficiency
Maple syrup urine disease
Medium-chain acyl-coenzyme A dehydrogenase deficiency
Menkes disease
Metab-L
Methylmalonic acidemia
Methylmalonyl-CoA mutase deficiency
Mevalonate kinase deficiency
Myoadenylate deaminase deficiency
Newborn screening
Niemann-Pick disease, type C
Organic acidemia
Ornithine translocase deficiency
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
Urocanic aciduria
Wolman disease
X-linked ichthyosis
Zellweger syndrome
more...
Autosomal recessive disorders
(248)
Alkaptonuria
Homocystinuria
17-beta-hy- droxysteroid dehydrogenase deficiency
2-Hydroxyglutaric aciduria
3 methylcrotonyl-coa carboxylase deficiency
3 methylcrotonyl-coa carboxylase deficiency
ASL deficiency
Abdallat Davis Farrage syndrome
Abderhalde- n-Kaufmann-Lignac syndrome
Abetalipop- roteinemia
Ablepharon macrostomia syndrome
Acatalasia
Aceruloplasminemia
Acheiropodia
Acrocallosal syndrome
Acrodermatitis enteropathica
Acute fatty liver of pregnancy
Adducted thumb syndrome
Adenine phosphorib- osyltransferase deficiency
Adenosine deaminase deficiency
Aicardi-Goutieres syndrome
Aldolase A deficiency
Alpha-mannosidosis
Antley-Bixler syndrome
Arginase deficiency
Arterial tortuosity syndrome
Aspartylgl- ucosaminuria
Atelosteogenesis, type II
Atransferrinemia
Bare lymphocyte syndrome
Batten disease
Behr's syndrome
Bernard-Soulier syndrome
Beta-ketothiolase deficiency
Beta-mannosidosis
Bietti's crystalline dystrophy
Biotinidase deficiency
Bloom syndrome
Blue diaper syndrome
CAMFAK syndrome
Canavan disease
Carbamoyl phosphate synthetase I deficiency
Carnitine palmitoylt- ransferase I deficiency
Carnitine palmitoylt- ransferase II deficiency
Carnitine-- acylcarnitine translocase deficiency
Carnosinemia
Carpenter syndrome
Cartilage–hair hypoplasia
Cenani Lenz syndactylism
Cerebrotendineous xanthomatosis
Chediak–Higashi syndrome
Chondrodystrophy
Chorea acanthocytosis
Citrullinemia
Cockayne syndrome
Compound heterozygosity
Congenital adrenal hyperplasia
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Congenital hepatic fibrosis
Congenital ichthyosiform erythroderma
Congenital insensitivity to pain with anhidrosis
Craniodiaphyseal dysplasia
Cystathioninuria
Cystic fibrosis
Cystinosis
Cystinuria
D-Glyceric acidemia
DOOR syndrome
Diastrophic dysplasia
Dihydropyrimidine dehydrogenase deficiency
Donohue syndrome
Dubin-Johnson syndrome
Dubowitz syndrome
EAST syndrome
EEM syndrome
Ellis-van Creveld syndrome
Essential fructosuria
Ethylmalonic encephalopathy
Familial Mediterranean fever
Familial dysautonomia
Familial isolated vitamin E deficiency
Fanconi anemia
Farber disease
Fibrochondrogenesis
Finnish heritage disease
Fountain syndrome
Friedreich's ataxia
Fucosidosis
Fumarase deficiency
GM2-gangliosidosis, AB variant
Galactokinase deficiency
Galactose epimerase deficiency
Galactose-- 1-phosphate uridylyltransferase galactosemia
Galloway Mowat syndrome
Gangliosidosis
Gastroschisis
Gaucher's disease
Gerodermia osteodysplastica
Giant axonal neuropathy
Gitelman syndrome
Glanzmann's thrombasthenia
Glucose-galactose malabsorption
Glutaric acidemia type 1
Glutaric acidemia type 2
Glutathione synthetase deficiency
Glycogen storage disease type I
Glycogen storage disease type II
Glycogen storage disease type III
Glycogen storage disease type V
Griscelli syndrome
Guanidinoacetate methyltransferase deficiency
Gunther disease
Hartnup disease
Hemophagocytic lymphohistiocytosis
Hereditary pyropoikilocytosis
Hermansky–Pudlak syndrome
Histidinemia
Holocarboxylase synthetase deficiency
Hurler syndrome
Hyperlysinemia
Hypermethioninemia
Hyperprolinemia
Hypertryptophanemia
Hypervalinemia
ICF syndrome
Ichthyosis lamellaris
Iminoglycinuria
Impossible syndrome
Infantile free sialic acid storage disease
Infantile neuroaxonal dystrophy
Isobutyryl-CoA dehydrogenase deficiency
Isovaleric acidemia
Jervell and Lange-Nielsen syndrome
Johanson-Blizzard syndrome
Juvenile Primary Lateral Sclerosis
Kaufman oculocerebrofacial syndrome
Keutel syndrome
Kindler syndrome
Krabbe disease
LCHAD
Lafora disease
Laron syndrome
Lecithin cholesterol acyltransferase deficiency
Leukocyte adhesion deficiency
Lipid storage disorder
Lipoid congenital adrenal hyperplasia
Lucey-Driscoll syndrome
Lysinuric protein intolerance
Malonyl-CoA decarboxylase deficiency
Maple syrup urine disease
Meckel syndrome
Medium-chain acyl-coenzyme A dehydrogenase deficiency
Meleda disease
Metachromatic leukodystrophy
Methemoglobinemia
Methylmalonic acidemia
Mevalonate kinase deficiency
Micro syndrome
Microvillous inclusion disease
Morquio syndrome
Mucolipidosis
Mucolipidosis type IV
Mucopolysa- ccharidosis
Multiple sulfatase deficiency
N-acetylglutamate synthase deficiency
Nemaline myopathy
Nephronophthisis
Netherton syndrome
Neuronal ceroid lipofuscinosis
Nezelof syndrome
Niemann-Pick disease, type C
Niemann–Pick disease
Ochronosis
Oculodentodigital syndrome
Oguchi disease
Omenn syndrome
Ornithine translocase deficiency
Orotic aciduria
Otospondyl- omegaepiphyseal dysplasia
Papillon–Lefèvre syndrome
Pendred syndrome
Persistent Mullerian duct syndrome
Phenylketonuria
Phosphofructokinase deficiency
Primary carnitine deficiency
Primary ciliary dyskinesia
Progressive external ophthalmoplegia
Prolidase deficiency
Propionic acidemia
Pseudodominance
Pseudoxanthoma elasticum
Purine nucleoside phosphorylase deficiency
Pycnodysostosis
Pyruvate carboxylase deficiency
Rabson-Mendenhall syndrome
Raine syndrome
Rapadilino syndrome
Recessive multiple epiphyseal dysplasia
Renal dysplasia-limb defects syndrome
Renal-hepa- tic-pancreatic dysplasia
Reproductive compensation
Restrictive dermopathy
Richner Hanhart syndrome
Rothmund–Thomson syndrome
Rotor syndrome
Sabinas brittle hair syndrome
Saccharopinuria
Salla disease
Sandhoff disease
Sanfilippo syndrome
Sarcosinemia
Short-chain acyl-coenzyme A dehydrogenase deficiency
Shwachman-Diamond syndrome
Sickle cell trait
Sickle-cell disease
Situs inversus
Sly syndrome
Smith-Lemli-Opitz syndrome
Succinic semialdehyde dehydrogenase deficiency
Sugarman syndrome
Survival motor neuron spinal muscular atrophy
Tangier disease
Tay-Sachs disease
Tetrahydrobiopterin deficiency
Thalassemia
Trifunctional protein deficiency
Trimethylaminuria
Triosephosphate isomerase deficiency
Type I tyrosinemia
Type III tyrosinemia
Tyrosinemia
Tyrosinemia type II
Urbach–Wiethe disease
Urocanic aciduria
Usher syndrome
Vaso-occlusive crisis
Very long-chain acyl coenzyme A dehydrogenase deficiency
Vici syndrome
Weissenbac- her-Zweymüller syndrome
Werner syndrome
Wilson's disease
Wolcott-Rallison syndrome
Wolman disease
Woodhouse-Sakati syndrome
Xeroderma pigmentosum
Yunis-Varon syndrome
ZAP70 deficiency
Zazam Sheriff Phillips syndrome
Zunich–Kaye syndrome
more...
Genetic disorders
(33)
Andersen-Tawil syndrome
Acrocephal- opolysyndactyly
6-pyruvoyl- tetrahydropterin synthase deficiency
Arginase deficiency
ASL deficiency
ASL deficiency
Urea cycle disorders
Isobutyryl-CoA dehydrogenase deficiency
Citrullinemia
Ornithine transcarbamylase deficiency
Aspartylgl- ucosaminuria
Glutaric acidemia type 1
Type I tyrosinemia
Very long-chain acyl coenzyme A dehydrogenase deficiency
Tyrosinemia type II
2-Methylbutyryl-CoA dehydrogenase deficiency
3 methylcrotonyl-coa carboxylase deficiency
3-hydroxy-- 3-methylglutaryl-CoA lyase deficiency
2-Hydroxyglutaric aciduria
Carbamoyl phosphate synthetase I deficiency
N-acetylglutamate synthase deficiency
Methylmalonic acidemia
Hartnup disease
Phenylketonuria
Trifunctional protein deficiency
Sarcosinemia
Tyrosinemia
Hawkinsinuria
Beta-ketothiolase deficiency
Maple syrup urine disease
LCHAD
Homocystinuria
Alkaptonuria
Hypermethioninemia
more...
Medical condition
(35)
N-acetyl glutamate synthetase deficiency
Inborn errors of renal tubular transport
Atelosteogenesis type 2
Acanthoche- ilonemiasis
Aminoacidopathies
Aminoacidopathies
Hyperammonemia
Agenesis of corpus callosum
Anemia, hemolytic
Albinism
Aniridia
Granulomatosis
Astrocytoma
Arginase deficiency
ASL deficiency
Urea cycle disorders
Citrullinemia
Ornithine transcarbamylase deficiency
Aspartylgl- ucosaminuria
Tyrosinemia type II
Acrocephal- opolysyndactyly
2-Hydroxyglutaric aciduria
Carbamoyl phosphate synthetase I deficiency
Methylmalonic acidemia
Hartnup disease
Phenylketonuria
Trifunctional protein deficiency
Sarcosinemia
Tyrosinemia
6-pyruvoyl- tetrahydropterin synthase deficiency
Hawkinsinuria
Beta-ketothiolase deficiency
Metabolic disease
Maple syrup urine disease
Homocystinuria
Alkaptonuria
more...
Genetic disorder
(10)
Arginase deficiency
Aspartylgl- ucosaminuria
2-Methylbutyryl-CoA dehydrogenase deficiency
Acrocephal- opolysyndactyly
Carbamoyl phosphate synthetase I deficiency
Carbamoyl phosphate synthetase I deficiency
Methylmalonic acidemia
Trifunctional protein deficiency
Sarcosinemia
6-pyruvoyl- tetrahydropterin synthase deficiency
Hawkinsinuria
more...
Metabolism
Metabolic disorders
Amino acid metabolism
Metabolic disease
See also
(20)
Diseases and disorders
Urea cycle
ASL (gene)
Argininosuccinic acid synthetase
Argininosuccinic acid
Argininosuccinic acid
Carbamyl phosphate synthetase
Liver transplantation
Autosomal recessive
Acanthocytosis
Trichorrhexis nodosa
Polyglandular
Acyl CoA dehydrogenase
Autosomal dominant
Hyperfunction
NAGS
Allergy shots
Ammonia poisoning
Low protein diet
Tandem mass spectrometry
Xerosis
more...
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