Phenylketonuria: Causes & Reasons

Possible Causes for 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

Of 34.5 million babies tested for phenylketonuria, 3000 cases have been diagnosed in time to prevent mental retardation by means of dietary therapy. [books.google.ro]

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]

Imidazolepyruvic acid in the urine of these patients gives a green color with ferric chloride, and the disease may be confused with phenylketonuria. [pediatrics.aappublications.org]

Phenylketonuria

Inborn errors of Phenylalanine metabolism: Phenylketonuria Phenylketonuria (PKU) is a metabolic disease characterized by accumulation of Phenylalanine (Phe) and its by-products [mun.ca]

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

(Australasian Centre) website Using diet to manage phenylketonuria | Cochrane Phenylketonuria (PKU) is an inherited disease that affects the breakdown of protein. [healthdirect.gov.au]

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]

They differ from classical phenylketonuria in their greater tolerance to dietary phenylalanine and better prognosis for future intelligence. [adc.bmj.com]

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

Velocardiofacial Syndrome

Besides 22q11 deletion syndrome, there is trisomy 13, trisomy 18, amnion rupture sequence, fetal alcohol syndrome, retinoic acid embryopathy, homocystinuria, and phenylketonuria [ncbi.nlm.nih.gov]

Hyperphenylalaninemia

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]

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

Phenylketonuria and mild hyperphenylalaninemia were found to be allelic; certain pairs of alleles induced the more severe phenylketonuria phenotype, and other pairs induced [ncbi.nlm.nih.gov]

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]

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

Phenylketonuria (PKU) Homocystinuria (HCY) Hypermethioninemia (MET) Maple Syrup Urine Disease (MSUD) Tyrosinemia, Type I (TYR I) Tyrosinemia, Type II (TYR II) Tyrosinemia [ascaa.org]

Microcephaly

[…] infected with a cytomegalovirus, rubella (German measles), varicella (chicken pox) virus, or possibly Zika virus; was exposed to certain toxic chemicals; or had untreated phenylketonuria [ninds.nih.gov]

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

Sarcosinemia

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 [partners.academic.ru]

* * * 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 [partners.academic.ru]

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]

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]

Causes: Inborn Errors of Metabolism Phenylketonuria Maple syrup urine disease (infants, rare) Glutaric acidemia Isovaleric acidemia Hawkinsinuria Hypermethioninemia Multiple [fpnotebook.com]

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

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]

Disorder of Carbohydrate Metabolism

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

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

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]

NaPBA 12 The Effectiveness of Kuvan in Amish PKU Patients Recruiting NCT02677870 Phase 4 saproterin dihydrochloride 13 Kuvan®'s Effect on the Cognition of Children With Phenylketonuria [malacards.org]

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]

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]

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]

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]

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]

Pfeiffer-Palm-Teller Syndrome

[…] high-pitched voice) 2664 261575 PHAVER syndrome (pterygia, heart defects, autosomal recessive inheritance, vertebral defects, ear anomalies, and radial defects) 2665 261600 Phenylketonuria [syndromefinder.ncchd.go.jp]

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]

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]

Phenylketonuria (PKU) PKU is and autosomal recessive disorder most commonly caused by a mutation in the gene coding for phenyalanine hydroxylase. [alliedacademies.org]

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]

Hyperglycinuria

They included 1 with dibasic aminoaciduria; 1 six-year-old with phenylketonuria; 1 with hyperphenylalaninuria; 5 with cystathioninuria; 2 with hyperglycinuria; 1 with hyperglycinuria [thelancet.com]

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

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]

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]

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 [ssf.f15ijp.com]

Valinemia

phenylketonuria http://snomed.info/sct © : 7573000 Classical phenylketonuria (disorder) LA12520-5 26 Pyroglutamic acidemia http://snomed.info/sct © : 39112005 Glutathione [r.details.loinc.org]

phenylketonuria Copyright http://snomed.info/sct ID:7573000 Classical phenylketonuria (disorder) LA12520-5 Pyroglutamic acidemia Copyright http://snomed.info/sct ID:39112005 [loinc.org]

Adrenoleukodystrophy, Neuroblastoma, NICCD, Ornithine transcarbamylase deficiency, Orotic aciduria, Partial deficiency of hypoxanthine-guanine phosphoribosyltransferase deficiency, Phenylketonuria [geno.ma]

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]

Pyridoxine Dependency Syndrome

[…] brain damage Congenital infections Perinatal disorders Hypoxia or brain ischemia Meningitis Encephalitis Intracranial hemorrhage Postnatal disorders Pyridoxine dependency Phenylketonuria [news-medical.net]

Deficiency 250850 Genetic Test Registry N-Acetylaspartate Deficiency NACED 614063 Genetic Test Registry Parkinsonism-Dystonia, Infantile PKDYS 613135 Genetic Test Registry Phenylketonuria [ukgtn.nhs.uk]

Postnatal disorders include pyridoxine dependency, maple syrup urine disease, phenylketonuria, meningitis, degenerative diseases, biotinidase deficiency, and trauma. [patient.info]