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Arginase Deficiency
Arginase deficiency
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Inborn errors of metabolism
(106)
2-Methylbutyryl-CoA dehydrogenase deficiency
3-hydroxy-- 3-methylglutaryl-CoA lyase deficiency
Argininosuccinic aciduria
Beta-ketothiolase deficiency
Citrullinemia
Citrullinemia
Hypermethioninemia
Isovaleric acidemia
Medium chain acyl CoA dehydrogenase deficiency
Metabolic diseases
Methylmalonic acidemia
N-acetylglutamate synthetase deficiency
Newborn screening
Ornithine transcarbamylase deficiency
Propionic acidemia
Tyrosinemia type II
Urea cycle disorders
2,4 Dienoyl-CoA reductase deficiency
3-Methylcr- otonyl-CoA carboxylase deficiency
3-hydroxya- cyl-coenzyme A dehydrogenase deficiency
Acatalasia
Acid lipase disease
Adenosine deaminase deficiency
Adenylosuccinate lyase deficiency
Aldolase A deficiency
Analbuminaemia
Arakawa's syndrome II
Aspartylgl- ucosaminuria
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
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
Glutaric aciduria type 1
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
Hyperprolinemia
Hypervalinemia
Idiosyncrasy
Inborn error of lipid metabolism
Isobutyryl-coenzyme A dehydrogenase deficiency
Krabbe disease
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
Maple syrup urine disease
Menkes disease
Metab-L
Methylmalonyl-CoA mutase deficiency
Mevalonate kinase deficiency
Mitochondrial trifunctional protein deficiency
Myoadenylate deaminase deficiency
Niemann-Pick disease, type C
Organic acidemia
Ornithine translocase deficiency
Phenylketonuria
Primary carnitine deficiency
Prolidase deficiency
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 I tyrosinemia
Type III tyrosinemia
Tyrosinemia
Urocanic aciduria
Very long-chain acyl-coenzyme A dehydrogenase deficiency
Wolman disease
X-linked ichthyosis
Zellweger syndrome
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Autosomal recessive disorders
(11)
Homocystinuria
Argininosuccinic aciduria
N-acetylglutamate synthetase deficiency
Citrullinemia
Tyrosinemia type II
Tyrosinemia type II
Propionic acidemia
Isovaleric acidemia
Hypermethioninemia
Methylmalonic acidemia
Medium chain acyl CoA dehydrogenase deficiency
Beta-ketothiolase deficiency
more...
Genetic disorders
(17)
Acrocephal- opolysyndactyly
Genetic disease
Argininosuccinic aciduria
Urea cycle disorders
Ornithine transcarbamylase deficiency
Ornithine transcarbamylase deficiency
N-acetylglutamate synthetase deficiency
Citrullinemia
3-hydroxy-- 3-methylglutaryl-CoA lyase deficiency
2-Methylbutyryl-CoA dehydrogenase deficiency
Tyrosinemia type II
Propionic acidemia
Isovaleric acidemia
Hypermethioninemia
Methylmalonic acidemia
Medium chain acyl CoA dehydrogenase deficiency
Beta-ketothiolase deficiency
Homocystinuria
more...
Genetic disorder
Acrocephal- opolysyndactyly
2-Methylbutyryl-CoA dehydrogenase deficiency
Methylmalonic acidemia
Diseases and disorders
(32)
N-acetyl glutamate synthetase deficiency
Hyperammonemia
Anonychia onychodystrophy
Ornithine transcarbamylase
Agenesis of corpus callosum
Agenesis of corpus callosum
Acanthoche- ilonemiasis
Fatty acid oxidation disorders
Hyperornithinemia
Metabolic disorders
Aplasia cutis congenita
Ataxia
Anemia, hemolytic
Encephalopathy
Aniridia
Spastic diplegia
Iodine deficiency
Granulomatosis
Lethargy
Astrocytoma
Arthrogryposis
Mental retardation
Coma
Argininosuccinic aciduria
Urea cycle disorders
Ornithine transcarbamylase deficiency
Citrullinemia
Acrocephal- opolysyndactyly
Metabolic diseases
Tyrosinemia type II
Methylmalonic acidemia
Beta-ketothiolase deficiency
Homocystinuria
more...
Metabolism
Enzyme
Metabolic diseases
Metabolic disorders
Basic amino acids
Arginine
Argininosuccinic acid
Ornithine
Histidine
Lysine
Methyllysine
Enzyme
Carbamyl phosphate synthetase
Arginase
NAGS
See also
(20)
Urea cycle
Argininosuccinase acid lyase
alopecia cicatrisata
Autosomal recessive
Phenylacet- ylglutamine
Phenylacet- ylglutamine
N-acetylglutamate
Acanthocytosis
Sodium phenylacetate
Anatomy
Ammonia
J. Pediatr.
Allergy shots
Respiratory alkalosis
Acps
Anterior cruciate ligament
Autoimmune
In the Blood (song)
Spasticity
Nitrogen
Hepatic
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