Phenylketonuria: Causes & Reasons

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Possible Causes for Phenylketonuria

Classical Phenylketonuria

[Disease/Finding], phenylketonurias, phenylketonuria (PKU), phenylketouria, pku phenylketonuria, Phenylketonuria (disorder), Classical Phenylketonuria, Phenylalaninaemia, [fpnotebook.com]

People with PKU can enjoy all the pleasures of life and show little symptoms as long as they abide by their strict diet. -+ Types of Phenylketonuria Edit Maternal Phenylketonuria [drustapbio.wikia.com]

The PAH gene, phenylketonuria, and a paradigm shift. Hum Mutat. 2007 Sep;28(9):831-45. Review. What you need to know about ... phenylketonuria. [ghr.nlm.nih.gov]

Histidinemia

Abstract As a result of mass testing for phenylketonuria in infants and retarded children with the urinary ferric chloride test, a new entity, histidinemia, was described [annals.org]

Phenylketonuria

The extent of the deficiency depends on the enzyme activity, complete deficiency causes phenylketonuria, with residual enzyme activity causing mild phenylketonuria. [symptoma.com]

[…] phenyl + ketone + New Latin -uria Learn More about phenylketonuria Resources for phenylketonuria Statistics for phenylketonuria Last Updated 23 Apr 2019 Look-up Popularity [merriam-webster.com]

Pronunciation phenylketonuria /ˌfiːnʌɪlˌkiːtə(ʊ)ˈnjʊərɪə/ /ˌfɛnɪlˌkiːtə(ʊ)ˈnjʊərɪə/ [en.oxforddictionaries.com]

Maple Syrup Urine Disease

Herein, we report two patients with two co-existent IEMs: a girl affected by classic phenylketonuria (PKU) and maple syrup urine disease (MSUD) and a male patient affected [ncbi.nlm.nih.gov]

METHODS: A total of 370 dried blood spots (DBS) from healthy neonates, 44 DBS specimens from phenylketonuria neonates, and 38 DBS samples from 10 MSUD patients were retrospectively [ncbi.nlm.nih.gov]

All 50 states screen newborns for phenylketonuria (PKU). Most states also test newborns for galactosemia. [webmd.com]

Dihydropteridine Reductase Deficiency

Family study revealed no immediate or distant relatives with ‘classical’ phenylketonuria. [onlinelibrary.wiley.com]

Key words Hyperphenylalaninemia Phenylketonuria Cofactor deficiency Variants Abbreviations PKU phenylketonuria HPA hyperphenylalaninemia PAH phenylalanine hydroxylase DHPR [link.springer.com]

Abstract Atypical phenylketonuria among infants with hyperphenylalaninemia must be promptly diagnosed and differentiated from classical phenylketonuria, because these patients [ncbi.nlm.nih.gov]

Hyperphenylalaninemia

Due to a positive family history prenatal diagnosis for phenylketonuria was performed, revealing heterozygosity for classic phenylketonuria. [ncbi.nlm.nih.gov]

Woo SCL, Lidsky AS, Güttler F, Chandra T, Robson KJH (1983) Cloned human phenyl-alanine hydroxylase gene allows prenatal diagnosis and carrier detection of classical phenylketonuria [link.springer.com]

The classical phenylketonuria is described in some details, along with procedures for treatment and follow up of patients. [cejpaediatrics.com]

2-Methylbutyryl-CoA Dehydrogenase Deficiency

(ARG) Argininosuccinic Aciduria (ASA) Benign Hyperphenylalaninemia (H-PHE) State preferred name: PKU variant Citrullinemia, Type I (CIT) Citrullinemia, Type II (CIT II) Classic [ascaa.org]

Homocystinuria · Cystathioninuria General BC / OA Propionic acidemia · Methylmalonic acidemia · Methylmalonyl-CoA mutase deficiency G→ fumarate Phenylalanine / tyrosine Phenylketonuria [wiki30.com]

Biotinidase Deficiency (started 2000) Congenital Adrenal Hyperplasia (CAH) (started 2000) Galactosemia Homocystinuria Hypothyroidism (congenital) Maple Syrup Urine Disease (MSUD) Phenylketonuria [home4birth.com]

Sarcosinemia

* * * hy·per·sar·co·sin·e·mia (hi″pər sahr″ko sĭ neґme ə) elevated plasma concentration of sarcosine; see sarcosinemia … Medical dictionary Phenylketonuria — PKU redirects [translate.academic.ru]

Phenylketonuria Classification and external resources ICD 10 E70.0 ICD 9 … Wikipedia List of diseases (S) — A list of diseases in the English wikipedia.DiseasesTOC NOTOC Sa [translate.academic.ru]

Hyperlysinemia Type 1

Three metabolites Phenylpyruvic acid Phenyllactate Phenylacetate Phenylketonuria Urine odor Phenylketonuria Mental retardation Accumulation of phenylalanine in brain Phenylketonuria [brainscape.com]

A. disorders of amino acid metabolism 1 classical phenylketonuria and hyperphenylalaninemia 2 phenylketonuria due to PTPS deficiency 3 phenylketonuria due to DHPR deficiency [boks.be]

Phenylketonuria (PKU) was then shown to be a treatable genetic disease in which early diagnosis and effective treatment prevented the disease (mental retardation) in PKU. [books.google.de]

Hawkinsinuria

Phenylketonuria Classification and external resources ICD 10 E70.0 ICD 9 … Wikipedia Methylmalonic acidemia — Classification and external resources Methylmalonic acid ICD [translate.academic.ru]

Trends in Molecular Medicine. 8. 2002 How practical are recommendations for dietary control in phenylketonuria?. [findanexpert.unimelb.edu.au]

They include phenylketonuria (PKU) and maple syrup urine disease. Amino acids are "building blocks" that join together to form proteins. [icdlist.com]

Velocardiofacial Syndrome

Velocardiofacial or 22q11 deletion syndrome is a genetic condition caused by deletion 22q11, the deletion of a small segment of the long arm of chromosome 22. To our knowledge this is the first case report of a woman with Velocardiofacial syndrome presenting in late pregnancy for caesarean delivery. She had[…] [ncbi.nlm.nih.gov]

Disorder of Carbohydrate Metabolism

Routing screening for the common disorders of amino acid metabolism entails Phenylketonuria Maple syrup urine disease Homocystinuria Tyrosinemia Alkaptonuria Phenylketonuria [lecturio.com]

PAH deficiency causes a spectrum of disorders, including classic phenylketonuria and hyperphenylalaninemia (a less severe accumulation of phenylalanine). [courses.lumenlearning.com]

Disorders of carbohydrate metabolism E.g., glycogen storage disease Disorders of amino acid metabolism E.g., phenylketonuria maple syrup urine disease, glutaric acidemia type [drshailja.com]

Microcephaly

[…] radiation exposure, prenatal infections (eg, TORCH [toxoplasmosis, other pathogens, rubella, cytomegalovirus, and herpes simplex] and Zika virus), and poorly controlled maternal phenylketonuria [merckmanuals.com]

Other causes during pregnancy: There is evidence that alcohol and substance abuse, inadequate nutrition, untreated phenylketonuria (PKU) or exposure to toxic chemicals and [childrenshospital.org]

Disorder of Amino Acid Metabolism

Medical foods made from glycomacropeptide have been used successfully for the management of phenylketonuria and tyrosinemia. [ncbi.nlm.nih.gov]

GUTHRIE'S 1 2 3 recently introduced bacterial inhibition assay provides a simple and practical mass screening method for phenylketonuria. [nejm.org]

Phenylketonuria (PKU) is an inherited metabolic disorder. Individuals having phenylketonuria do not have the ability to further metabolize phenylalanine. [sigmaaldrich.com]

Tryptophanemia

Phenylalanine and Tyrosine Test Code: 26336 Clinical Use: Monitor response to treatment of phenylketonuria Individuals Suitable for Testing: Those with diagnosed phenylketonuria [questdiagnostics.com]

[…] nystagmus,high-arched palate,pectus carinatum, scoliosis and thoracic aneurysms ) m85 = Mucopolysaccharidosis type VIII ( Murdock's syndrome ) autosomal recessive m86 = Phenylketonuria [genetic_letters.tripod.com]

Isoleucine Propionic acidaemia and MSUD – Maple Syrup Urine Disease Leucine Isovaleric acidaemia and MSUD Lysine Hyperlysinaemia Methionine Hypermethioninaemia Phenylalanine Phenylketonuria [blog.herbaldiet.com]

Pfeiffer-Palm-Teller Syndrome

Palm Teller Syndrome Databases Pfeiffer Syndrome Databases Phace Association Databases Phaver Syndrome Databases Phenformin Databases Phenformin 4 Hydroxylation Databases Phenylketonuria [vadlo.com]

Phenylketonuria type II[?] Phenylketonuria Phenylketonurias[?] Phenylketonuric embryopathy[?] Pheochromocytoma as part of NF[?] Pheochromocytoma[?] [encyclopedia.kids.net.au]

[…] type II Phenylketonuria Phenylketonuric embryopathy Pheochromocytoma as part of NF Pheochromocytoma Philadelphia-negative chronic myeloid leukemia Phocomelia contractures [bioreference.net]

Autosomal Dominant Mental Retardation Type 21

Phenylketonuria (PKU) is an inherited disorder of metabolism that causes an increase in the blood of a chemical known as phenylalanine. [genome.gov]

They are more common because the males because males have only one X Chromosome Explain why eating "sugar free" foods causes a person with Phenylketonuria to become retarded [quizlet.com]

Phenylketonuria is an inborn error of metabolism. [medical-dictionary.thefreedictionary.com]

Hyperglycinuria

With high voltage paper electrophoresis and qualitative chemical tests, overflow aminoaciduria was demonstrated in 13 patients, i.e. phenylketonuria, 9; homocystinuria, 3; [karger.com]

hydratase deficiency) Barth Syndrome 3-hydroxy 3-methyl glutaric aciduria Glutaric aciduria type II Glutaric aciduria type I Mevalonate kinase deficiency Glyceroluria Phenylketonuria [metascreen.com.my]

Disorder of Sulfur-Bearing Amino Acid Metabolism

Examples include albinism, cystinuria (a cause of kidney stones) and phenylketonuria (pku) are a few of the hundreds of inborn errors of metabolism. (12 Dec 1998) intermediary [kmle.co.kr]

D813Adenosine deaminase [ADA] deficiency D815Purine nucleoside phosphorylase [PNP] deficiency D81810Biotinidase deficiency D841Defects in the complement system E700Classical phenylketonuria [cms.gov]

Hypermethioninemia Homocystinuria Cystathioninuria General BC / OA Propionic acidemia Methylmalonic acidemia Methylmalonyl-CoA mutase deficiency G→ fumarate Phenylalanine / tyrosine Phenylketonuria [dictionnaire.sensagent.leparisien.fr]

Transient Neonatal Hypertyrosinemia

Bickel, H.: Phenylalaninaemia or classical phenylketonuria (PKU)? Neuropaediatrie 1, 379–382 (1970) Google Scholar 5. [link.springer.com]

Learning outcome • Phenylketonuria (PKU) • Alkaptonuria • Albinism • Hypertyrosinemias 3. 1)Phenylketonuria (PKU) Intro • Genetic mutation; – enzyme not synthesized – enzyme [slideshare.net]

Moreover, 4-hydroxyphenylpyruvic acid is also found to be associated in phenylketonuria, which is also an inborn error of metabolism. [hmdb.ca]

2-Aminoadipic 2-Oxoadipic Aciduria

[…] deficiency + multiple carboxylase deficiency + Myopathy due to Malate-Aspartate Shuttle Defect N-Acetylaspartate Deficiency organic acidemia + ornithine translocase deficiency phenylketonuria [rgd.mcw.edu]

Phenylketonuria (PKU) was then shown to be a treatable genetic disease in which early diagnosis and effective treatment prevented the disease (mental retardation) in PKU. [books.google.ro]

[…] syndrome Myofosforylase deficiency N N-acetylglutamate synthase deficiency Niemann-Pick disease O Ornithine transcarbamylase deficiency Orotic aciduria P Perrault syndrome Phenylketonuria [genomediagnosticsnijmegen.nl]

Lysinemia

National Phenylketonuria Foundation. 6301 Tejas Drive, Pasadena, TX 77503. (713) 487-4802. [encyclopedia.com]

Dubin Johnson Syndrome 1 ] PHENYLKETONURIA :- This is an Autosomal Recessive ( A. [jalananil.tripod.com]

[…] total parenteral nutrition，中心静脈栄養長期施行下にまれにみられる二次性フェニルケトン尿症 90～99% 7. secondary mild phenylketonuria due to methotrexate，メトトレキサート使用下にまれにみられる二次性フェニルケトン尿 C. [jc-metabolomics.com]

Hyperdibasic Aminoaciduria Type 1

Several alleles at different gene loci are involved in the expression of various p henotypes.11,1819 Classical phenylketonuria (PKU) is only one of the phenotypes caused by [docplayer.net]

TABLE III Laboratory Tests Useful for the Differentiation of Phenylketonuria from Phenylketonuria Variants Analytes Elevated phenylalanine Decreased urinary 5- hydroxyindoleacetic [docplayer.net]

Prata-Libéral-Gonçalves Syndrome

Phenylketonuria type II[?] Phenylketonuria Phenylketonurias[?] Phenylketonuric embryopathy[?] Pheochromocytoma as part of NF[?] Pheochromocytoma[?] [encyclopedia.kids.net.au]

[…] type II Phenylketonuria Phenylketonuric embryopathy Pheochromocytoma as part of NF Pheochromocytoma Philadelphia-negative chronic myeloid leukemia Phocomelia contractures [bioreference.net]

[…] type II Phenylketonuria Phenylketonuric embryopathy Pheochromocytoma as part of NF Pheochromocytoma Philadelphia-negative chronic myeloid leukemia Pho-Pht Phocomelia contractures [wikidoc.org]

Organic Aciduria

Table 3 : Calculated incidences of the frequent aminoacidopathies other than phenylketonuria and organic acidurias. [latunisiemedicale.com]

Only three diseases in which organic acids accumulate were known (primary hyperoxaluria, phenylketonuria and alcaptonuria). [books.google.de]

[…] specific generalized aminoacidurias (58%), branched chain aminoacidurias (14%), tyrosinuria (13%), methlymalonic aciduria (7%) followed by mucopolysaccharidosis (4%) and phenylketonuria [biomedres.info]

Glutamate Formiminotransferase Deficiency

Only three diseases in which organic acids accumulate were known (primary hyperoxaluria, phenylketonuria and alcaptonuria). [books.google.ro]

They include phenylketonuria (PKU) and maple syrup urine disease. Amino acids are "building blocks" that join together to form proteins. [icdlist.com]

Ethylmalonic Encephalopathy Formiminoglutamic Aciduria ΔΙΑΤΑΡΑΧΕΣ ΜΕΤΑΒΟΛΙΣΜΟΥ ΑΜΙΝΟΞΕΩΝ Biopterin Biosynthesis Defects Biopterin Regeneration Defects Hyperphenylalaninemia Phenylketonuria [neolab.gr]

Congenital Disease

[…] disorders of the skin (dermatogenetic disorders) Marfan syndrome Neurofibromatosis and other neurogenetic disorders Osteogenesis imperfecta and other skeletal disorders Phenylketonuria [cham.org]

Phenylketonuria Phenylketonuria (PKU) is a is a rare inherited disorder that causes an amino acid called phenylalanine to build up in your body. [omicsonline.org]

Examples of metabolic defects include Tay-Sachs disease, a fatal disease that affects the central nervous system, and phenylketonuria (PKU), which affects the way the body [kidshealth.org]

Classic Maple Syrup Urine Disease

Learn more Comidamed Selection of powdered blends for the treatment of phenylketonuria (PKU) and other rare protein metabolism disorders. [drschar-medical.com]

All 50 states screen newborns for phenylketonuria (PKU). Most states also test newborns for galactosemia. [webmd.com]

The combination of a congenital lactic acidosis with a variant form of maple syrup urine disease and Phenylketonuria (PKU) and maple syrup urine disease (MSUD) are disorders [herbal-organic.com]

Beta-Ureidopropionase Deficiency

[…] spasticity with hyperglycinemia Choreoacanthocytosis Chronic diarrhea with villous atrophy Classic homocystinuria Classic pantothenate kinase-associated neurodegeneration Classic [se-atlas.de]

Classic phenylketonuria Maternal phenylketonuria Mild hyperphenylalaninemia Mild phenylketonuria Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria Disorder [repository.innermed.eu]

Iminoglycinuria

Phenylketonuria Classification and external resources ICD 10 E70.0 ICD 9 … Wikipedia List of diseases (I) — A list of diseases in the English wikipedia.DiseasesTOC * I cell [universalium.academic.ru]

They include phenylketonuria (PKU) and maple syrup urine disease. Amino acids are "building blocks" that join together to form proteins. [icdlist.com]

Cystinuria, histidinemia, Hartnup disease, and iminoglycinuria (Group I) is each approximately as frequent as is phenylketonuria (PKU) in Massachusetts (1:14,219). [pediatrics.aappublications.org]