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Hartnup Disease
Hartnup disease
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Autosomal recessive disorders
(19)
Leukodystrophy, globoid cell
Iminoglycinuria
Cystathioninuria
3 methylcrotonyl-coa carboxylase deficiency
Cerebrotendineous xanthomatosis
Cerebrotendineous xanthomatosis
Hypertryptophanemia
2-Hydroxyglutaric aciduria
Hyperprolinemia
Cystinosis
N-acetylglutamate synthase deficiency
Gangliosidoses
Tyrosinemia
Cystinuria
Histidinemia
Sarcosinemia
Carbamoyl phosphate synthetase I deficiency
Acatalasia
Alkaptonuria
Maple syrup urine disease
more...
Skin conditions resulting from errors in metabolism
Adrenoleuk- odystrophy
Cerebrotendineous xanthomatosis
Alkaptonuria
Rare diseases
Leukodystrophy, globoid cell
Iminoglycinuria
Hypertryptophanemia
2-Hydroxyglutaric aciduria
Gangliosidoses
Sarcosinemia
Maple syrup urine disease
Genetic disorders
(30)
Hyperostosis, cortical, congenital
Hereditary sensory and autonomic neuropathies
Galactosemias
2-Methylbutyryl-CoA dehydrogenase deficiency
6-pyruvoyl- tetrahydropterin synthase deficiency
6-pyruvoyl- tetrahydropterin synthase deficiency
Hereditary motor sensory neuropathy
3-hydroxy-- 3-methylglutaryl-CoA lyase deficiency
Ornithine transcarbamylase deficiency
Hawkinsinuria
Fructose intolerance
Adrenoleuk- odystrophy
Leukodystrophy, globoid cell
Iminoglycinuria
Cystathioninuria
3 methylcrotonyl-coa carboxylase deficiency
Cerebrotendineous xanthomatosis
Hypertryptophanemia
2-Hydroxyglutaric aciduria
Hyperprolinemia
Cystinosis
N-acetylglutamate synthase deficiency
Gangliosidoses
Tyrosinemia
Cystinuria
Histidinemia
Sarcosinemia
Carbamoyl phosphate synthetase I deficiency
Acatalasia
Alkaptonuria
Maple syrup urine disease
more...
Medical condition
(64)
Hemorrhagic thrombocythemia
Intraparenchymal hemorrhage
Hansens Disease
Hand-Schul- ler-Christian disease
Hereditary amyloidosis
Hereditary amyloidosis
Hemangioma
Hageman factor
Pellagra
Aminoaciduria
Inborn errors of renal tubular transport
Glossopharyngeal nerve diseases
Purpura, schoenlein-henoch
Type i complex regional pain syndrome
Myopathies, structural, congenital
Vulvar neoplasms
Enterocolitis, pseudomembranous
Physiologic nystagmus
Fetofetal transfusion
Histiocytosis non-langerhans-cell
Lupus erythematosus, cutaneous
Polyendocr- inopathies, autoimmune
Postpoliomyelitis syndrome
Encephalitis, arbovirus
Olfaction disorders
Hereditary-sensory and autonomic neuropathy type iii
Intervertebral disk displacement
Rosenthal syndrome
Brachial plexus neuropathies
Optic neuropathy, ischemic
Inborn metabolic disorder
Hydroa vacciniforme
Familial nephritis
Hyponatremia
Hypopituitarism
Hydrocephalus
Hydronephrosis
Hypoparathyroidism
Thyrotoxicosis
Vitamin a deficiency
Sphingolipidoses
Hyperammonemia
Hyperostosis, cortical, congenital
Hereditary sensory and autonomic neuropathies
Leukodystrophy, globoid cell
Iminoglycinuria
Cerebrotendineous xanthomatosis
Hypertryptophanemia
Galactosemias
2-Hydroxyglutaric aciduria
6-pyruvoyl- tetrahydropterin synthase deficiency
Hyperprolinemia
Hereditary motor sensory neuropathy
Cystinosis
Tyrosinemia
Cystinuria
Histidinemia
Ornithine transcarbamylase deficiency
Sarcosinemia
Carbamoyl phosphate synthetase I deficiency
Acatalasia
Hawkinsinuria
Alkaptonuria
Fructose intolerance
Maple syrup urine disease
more...
Pediatrics
Inborn errors of metabolism
Hyperostosis, cortical, congenital
Purpura, schoenlein-henoch
Inborn metabolic disorder
Inborn errors of metabolism
(107)
2,4 Dienoyl-CoA reductase deficiency
2-Methylbutyryl-CoA dehydrogenase deficiency
3 methylcrotonyl-coa carboxylase deficiency
3-hydroxy-- 3-methylglutaryl-CoA lyase deficiency
3-hydroxya- cyl-coenzyme A dehydrogenase 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
Argininemia
Argininosuccinic aciduria
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
Citrullinemia
Congenital disorder of glycosylation
Crigler-Najjar syndrome
D-Glyceric acidemia
DOOR syndrome
Dihydropyrimidine dehydrogenase deficiency
Disaccharidase
Essential fructosuria
Fructose intolerance
Fucosidosis
Fumarase deficiency
Galactose-- 1-phosphate uridylyltransferase galactosemia
Galactosemias
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
Histidinemia
Holocarboxylase synthetase deficiency
Hyperlysinemia
Hypermethioninemia
Hyperprolinemia
Hypervalinemia
Idiosyncrasy
Inborn error of lipid metabolism
Inborn metabolic disorder
Isobutyryl-coenzyme A dehydrogenase deficiency
Isovaleric acidemia
Lecithin cholesterol acyltransferase deficiency
Lesch–Nyhan syndrome
Leukodystrophy, globoid cell
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
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
N-acetylglutamate synthase deficiency
Newborn screening
Niemann-Pick disease, type C
Organic acidemia
Ornithine transcarbamylase deficiency
Ornithine translocase deficiency
Phenylketonuria
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 I tyrosinemia
Type III tyrosinemia
Tyrosinemia
Tyrosinemia type II
Urea cycle disorder
Urocanic aciduria
Very long-chain acyl-coenzyme A dehydrogenase deficiency
Wolman disease
X-linked ichthyosis
Zellweger syndrome
more...
Medicine
Diseases and disorders
Nephropathy
Short stature
Idiopathic
Dietary supplement
Nicotinamide
Tryptophan
Vitamin B-3
Histidine
See also
(20)
Herniation of the brain
Highly conserved sequence
Heart sounds
Hepatic transplant
Haverhill fever
Haverhill fever
Harrington rod
SLC6A19
Amino acids
Amino isobutyric acid
Alpha-aminoadipic acid
Neutral amino acid transporter
Reabsorption
Phosphoethanolamine
Cystine
Hypertension, renovascular
Oculocerebrorenal syndrome
Solute carrier family
Hyperfunction
Photosensitivity
Cerebellar ataxia
more...
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