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Phenylketonuria
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Phenylketonuria
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Related in the Kosmos
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Mental retardation
Congenital hypothyroidism
Fragile x syndrome
Inborn errors of metabolism
(106)
BH4 deficiency
Galactosemia
Glutaric aciduria type 1
Inborn error of metabolism
MCAD deficiency
MCAD deficiency
Maple syrup urine disease
Methylmalonic acidemia
Newborn screening
Propionic acidemia
Trimethylaminuria
Tyrosinemia
Urea cycle disorders
2,4 Dienoyl-CoA reductase deficiency
2-Methylbutyryl-CoA dehydrogenase deficiency
3-Methylcr- otonyl-CoA carboxylase deficiency
3-hydroxy-- 3-methylglutaryl-CoA lyase 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
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
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
Menkes disease
Metab-L
Methylmalonyl-CoA mutase deficiency
Mevalonate kinase deficiency
Mitochondrial trifunctional protein deficiency
Myoadenylate deaminase deficiency
N-Acetylglutamate synthase deficiency
Niemann-Pick disease, type C
Organic acidemia
Ornithine transcarbamylase deficiency
Ornithine translocase deficiency
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
Type I tyrosinemia
Type III tyrosinemia
Tyrosinemia type II
Urocanic aciduria
Very long-chain acyl-coenzyme A dehydrogenase deficiency
Wolman disease
X-linked ichthyosis
Zellweger syndrome
more...
Autosomal recessive disorders
(13)
Homocystinuria
Alkaptonuria
Tay Sachs disease
Biotinidase deficiency
Congenital adrenal hyperplasia
Congenital adrenal hyperplasia
Maple syrup urine disease
Tyrosinemia
BH4 deficiency
Glutaric aciduria type 1
Trimethylaminuria
Propionic acidemia
Methylmalonic acidemia
MCAD deficiency
more...
Skin conditions resulting from errors in metabolism
Hunter syndrome
Alkaptonuria
Genetic disorders
(21)
Genetic disorder
Microcephaly
Cri du chat syndrome
Polycystic kidney disease
Galactosemia
Galactosemia
Maple syrup urine disease
Homocystinuria
Alkaptonuria
Tyrosinemia
Tay Sachs disease
BH4 deficiency
Biotinidase deficiency
Congenital adrenal hyperplasia
Glutaric aciduria type 1
Trimethylaminuria
Hunter syndrome
Fragile x syndrome
Urea cycle disorders
Propionic acidemia
Methylmalonic acidemia
MCAD deficiency
more...
Medical condition
(42)
Panniculitis
Pityriasis
Phenylalanine hydroxylase deficiency
Polymyalgia rheumatica
Post polio syndrome
Post polio syndrome
Pterygium
Penile cancer
Precocious puberty
Patello-femoral Syndrome
Phimosis
Primary biliary cirrhosis
Polymyositis
Pseudomonas infections
Protein c deficiency
Placenta previa
Premature ventricular contractions
Dihydropteridine reductase deficiency
Reye syndrome
Primary pulmonary hypertension
Dermatomyositis
Athetosis
Maternal hyperpheny- lalaninemia
Infectious mononucleosis
Dyskenesia
Galactosemia
Maple syrup urine disease
Homocystinuria
Congenital hypothyroidism
Severe mental retardation
Inborn error of metabolism
Alkaptonuria
Tyrosinemia
Tay Sachs disease
Microcephaly
Biotinidase deficiency
Congenital adrenal hyperplasia
Cri du chat syndrome
Trimethylaminuria
Hunter syndrome
Fragile x syndrome
Urea cycle disorders
Methylmalonic acidemia
more...
Aromatic amino acids
Phenylalanine
Tyrosine
D-DOPA
Tryptophan
Metabolic pathways
(32)
Phenylalanine hydroxylase
Urea cycle
Alanine cycle
Alpha oxidation
Alpha-aminoadipate pathway
Alpha-aminoadipate pathway
Aminoshikimate pathway
Beta oxidation
Citric acid cycle
Cori cycle
Entner–Doudoroff pathway
Gluconeogenesis
Glucose cycle
Glycogenesis
Glycogenolysis
Glycolysis
Glyoxylate cycle
Kynurenine pathway
Lactic acid fermentation
Mental retardation
Mevalonate inhibition
Mevalonate pathway
Microsomal Ethanol Oxidizing System
Non-mevalonate pathway
Octadecanoid pathway
Pentose phosphate pathway
Phenylalanine
Polyol pathway
Reductive acetyl-CoA pathway
Reverse Krebs cycle
Steroid
Transsulfuration pathway
Urea Cycle
more...
Metabolism
Metabolic disorders
Amino acid metabolism
Enzyme
Inborn error of metabolism
Symptoms
(9)
Eczema
Hyperactivity
Rash
Seizure
Spasticity
Spasticity
Tremor
Watery diarrhea
Severe mental retardation
Dyskenesia
more...
Drug
Tannate 12 S
Tussizone-12 RF
Tannic-12
Respi-TANN
Phenex-2
Phenex-1
Enzymes
Acyl CoA dehydrogenase
Phenylalanine ammonia-lyase
Cofactor (biochemistry)
Enzyme
Causes, incidence, and risk factors
Amino acid
Central nervous system
Melanin
Mental retardation
See also
(20)
Amino acids
Pinguecula
Pickwickian syndrome
Posterior cruciate ligament
Peroneus brevis
Peroneus brevis
Pneumocystis carinii pneumonia
Tetrahydrobiopterin
Pervasive developmental disorders
BioMarin
Pinworms
Cephalosporin antibiotics
Journal of Inherited Metabolic Disease
Autosomal recessive trait
Chorionic villus sample
Enzyme assay
Heelstick
Ivar Asbjørn Følling
Aspartame
Essential amino acid
Nutricia
more...
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