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Maple Syrup Urine Disease
Maple syrup urine disease
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Symptoms
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Genetic Information
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Related in the Kosmos
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Rare diseases
(14)
Propionic acidemia
Newborn screening
Beta-ketothiolase deficiency
Isovaleric acidemia
Methylmalonic acidemia
Methylmalonic acidemia
Fabry disease
Argininosuccinic acidemia
Metachromatic leukodystrophy
Leukodystrophy, globoid cell
Hartnup disease
Hypervalinemia
Gaucher disease
2-Hydroxyglutaric aciduria
Multiple sulfatase deficiency
more...
Inborn errors of metabolism
(106)
2-Methylbutyryl-CoA dehydrogenase deficiency
3 methylcrotonyl-coa carboxylase deficiency
3-hydroxy-- 3-methylglutaryl-CoA lyase deficiency
Carnitine uptake defect
Citrullinemia
Citrullinemia
Galactosemia
Glutaric acidemia type I
Glycogen storage disease
Inborn error of metabolism
Isobutyryl-CoA dehydrogenase deficiency
LCHAD
McArdles syndrome
Medium chain acyl CoA dehydrogenase deficiency
Organic acidemia
Phenylketonuria
Trifunctional protein deficiency
Type I tyrosinemia
Type III tyrosinemia
Tyrosinemia
Tyrosinemia type II
Very-long-chain acyl-CoA dehydrogenase deficiency
2,4 Dienoyl-CoA reductase 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 acidemia
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
Crigler-Najjar syndrome
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 type I
Glycogen storage disease type II
Glycogen storage disease type III
Guanidinoacetate methyltransferase deficiency
Hawkinsinuria
Hereditary fructose intolerance
Histidinemia
Holocarboxylase synthetase deficiency
Hyperlysinemia
Hypermethioninemia
Hyperprolinemia
Hypervalinemia
Idiosyncrasy
Inborn error of lipid metabolism
Isovaleric acidemia
Lecithin cholesterol acyltransferase deficiency
Lesch–Nyhan syndrome
Leukodystrophy, globoid cell
Lipid storage disorder
Lipid storage disorders
Lysinuric protein intolerance
Lysosomal storage disease
Lysosomal storage diseases
Malonyl-CoA decarboxylase deficiency
Menkes disease
Metab-L
Methylmalonic acidemia
Methylmalonyl-CoA mutase deficiency
Mevalonate kinase deficiency
Myoadenylate deaminase deficiency
N-Acetylglutamate synthase deficiency
Newborn screening
Niemann-Pick disease, type C
Ornithine transcarbamylase deficiency
Ornithine translocase 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
Urea cycle disorder
Urocanic aciduria
Wolman disease
X-linked ichthyosis
Zellweger syndrome
more...
Autosomal recessive disorders
(248)
Biotinidase deficiency
Cerebrotendineous xanthomatosis
Congenital adrenal hyperplasia
Cystathioninuria
Cystinosis
Cystinosis
Cystinuria
Homocystinuria
Mucolipidosis type 4
Mucopolysa- ccharidosis
17-beta-hy- droxysteroid dehydrogenase deficiency
2-Hydroxyglutaric aciduria
3 methylcrotonyl-coa carboxylase 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
Adenylosuccinate lyase deficiency
Aicardi-Goutieres syndrome
Aldolase A deficiency
Alkaptonuria
Alpha-mannosidosis
Antley-Bixler syndrome
Argininemia
Argininosuccinic acidemia
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
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 uptake defect
Carnitine-- acylcarnitine translocase deficiency
Carnosinemia
Carpenter syndrome
Cartilage–hair hypoplasia
Cenani Lenz syndactylism
Chediak–Higashi syndrome
Chondrodystrophy
Chorea acanthocytosis
Citrullinemia
Cockayne syndrome
Compound heterozygosity
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Congenital hepatic fibrosis
Congenital ichthyosiform erythroderma
Congenital insensitivity to pain with anhidrosis
Craniodiaphyseal dysplasia
Cystic fibrosis
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 disease
Gerodermia osteodysplastica
Giant axonal neuropathy
Gitelman syndrome
Glanzmann's thrombasthenia
Glucose-galactose malabsorption
Glutaric acidemia type 2
Glutaric acidemia type I
Glutathione synthetase deficiency
Glycogen storage disease type I
Glycogen storage disease type II
Glycogen storage disease type III
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
LCHAD
Lafora disease
Laron syndrome
Lecithin cholesterol acyltransferase deficiency
Leukocyte adhesion deficiency
Leukodystrophy, globoid cell
Lipid storage disorder
Lipoid congenital adrenal hyperplasia
Lucey-Driscoll syndrome
Lysinuric protein intolerance
Malonyl-CoA decarboxylase deficiency
McArdles syndrome
Meckel syndrome
Medium chain acyl CoA dehydrogenase deficiency
Meleda disease
Metachromatic leukodystrophy
Methemoglobinemia
Methylmalonic acidemia
Mevalonate kinase deficiency
Micro syndrome
Microvillous inclusion disease
Morquio syndrome
Mucolipidosis
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 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-CoA 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
(47)
Hyperostosis, cortical, congenital
Fukuyama type muscular dystrophy
Adrenoleuk- odystrophy
Muenke syndrome
Hereditary sensory and autonomic neuropathies
Hereditary sensory and autonomic neuropathies
Muscular dystrophy - Duchenne type
McArdles syndrome
Homocystinuria
Galactosemia
Phenylketonuria
Tyrosinemia
Mucopolysa- ccharidosis
Propionic acidemia
Glutaric acidemia type I
Trifunctional protein deficiency
Carnitine uptake defect
3 methylcrotonyl-coa carboxylase deficiency
Beta-ketothiolase deficiency
Isovaleric acidemia
Isobutyryl-CoA dehydrogenase deficiency
Biotinidase deficiency
Cystinosis
Very-long-chain acyl-CoA dehydrogenase deficiency
Methylmalonic acidemia
3-hydroxy-- 3-methylglutaryl-CoA lyase deficiency
Fabry disease
Cystinuria
Congenital adrenal hyperplasia
Argininosuccinic acidemia
Type I tyrosinemia
Medium chain acyl CoA dehydrogenase deficiency
Tyrosinemia type II
Metachromatic leukodystrophy
Citrullinemia
2-Methylbutyryl-CoA dehydrogenase deficiency
Leukodystrophy, globoid cell
Type III tyrosinemia
Cystathioninuria
Mucolipidosis type 4
Organic acidemia
Hartnup disease
Cerebrotendineous xanthomatosis
Hypervalinemia
Gaucher disease
LCHAD
2-Hydroxyglutaric aciduria
Multiple sulfatase deficiency
more...
Medical condition
(66)
Mesangiocapillary glomerulonephritis
Mammary dysplasia
Malignant melanoma
Congenital hypomyelination
Glossopharyngeal nerve diseases
Glossopharyngeal nerve diseases
Hyperammonemia
Purpura, schoenlein-henoch
Type i complex regional pain syndrome
Congenital hypothyroidism
Camptomelic syndrome
Myopathies, structural, congenital
Marinesco sjogren syndrome
Moebius syndrome
Chromosome 9 trisomy
Chromosome 9 tetrasomy 9p
Chromosome 5 trisomy 5p
Enterocolitis, pseudomembranous
Physiologic nystagmus
Fetofetal transfusion
Histiocytosis non-langerhans-cell
Poor feeding
Lupus erythematosus, cutaneous
Polyendocr- inopathies, autoimmune
Postpoliomyelitis syndrome
Encephalitis, arbovirus
Olfaction disorders
Metatropic dwarfism
Morvan disease
Malignant fibrous histiocytoma
Intervertebral disk displacement
Melnick-needles syndrome
Rosenthal syndrome
Fatty acid oxidation disorders
Homocystinuria
Galactosemia
Phenylketonuria
Tyrosinemia
Mucopolysa- ccharidosis
Trifunctional protein deficiency
Carnitine uptake defect
Beta-ketothiolase deficiency
Biotinidase deficiency
Cystinosis
Methylmalonic acidemia
Inborn error of metabolism
Fabry disease
Cystinuria
Congenital adrenal hyperplasia
Hyperostosis, cortical, congenital
Argininosuccinic acidemia
Fukuyama type muscular dystrophy
Glycogen storage disease
Tyrosinemia type II
Metachromatic leukodystrophy
Citrullinemia
Muenke syndrome
Hereditary sensory and autonomic neuropathies
Leukodystrophy, globoid cell
Mucolipidosis type 4
Organic acidemia
Hartnup disease
Cerebrotendineous xanthomatosis
Hypervalinemia
Muscular dystrophy - Duchenne type
Gaucher disease
2-Hydroxyglutaric aciduria
more...
Metabolism
Metabolic disorders
Amino acid metabolism
Inborn error of metabolism
Lysosomal storage diseases
(40)
Alpha-mannosidosis
Aspartylgl- ucosaminuria
Batten disease
Canavan disease
Cholesteryl ester storage disease
Cholesteryl ester storage disease
Cystinosis
Fabry disease
Farber disease
GM1 gangliosidoses
GM2 gangliosidoses
Galactosialidosis
Gangliosidosis
Gaucher disease
Glycogen storage disease type II
Glycoproteinosis
Hunter syndrome
Hurler syndrome
I-cell disease
Leukodystrophy, globoid cell
Lipid storage disorder
Lysosomal storage disease
Metachromatic leukodystrophy
Morquio syndrome
Mucolipidosis
Mucolipidosis type 4
Mucopolysa- ccharidosis
Multiple sulfatase deficiency
Neuronal ceroid lipofuscinosis
Niemann-Pick disease, type C
Niemann–Pick disease
Pseudo-Hurler polydystrophy
Pycnodysostosis
Salla disease
Sandhoff disease
Sanfilippo syndrome
Schindler disease
Sialidosis
Sly syndrome
Tay-Sachs disease
Wolman disease
more...
Branched-chain amino acids
Amino isobutyric acid
Isoleucine
Leucine
Valine
Leucine (data page)
Valine, leucine and isoleucine degradation
Essential amino acids
(12)
Arginine
Histidine
Isoleucine
Leucine
Leucine (data page)
Leucine (data page)
Lysine
Methionine
Phenylalanine
S-Methylmethionine
Threonine
Tryptophan
Valine
more...
See also
(20)
Diseases and disorders
Maxillofacial injury
Major depression with psychotic features
Medial collateral ligament
Amino acids
Amino acids
BCKDHA
Urea cycle
BCKDHB
Branched-chain alpha-keto acid dehydrogenase complex
Keto acid
Amino acid
Amish
Ketosis
Organisms
Peritoneal dialysis
Plasma amino acid test
Urine amino acid test
L-3-hydroxyacyl CoA dehydrogenase
Ashkenazi Jewish
Maple syrup
more...
more categories...
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