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]

Convert to ICD-10-CM : 270.1 converts approximately to: 2015/16 ICD-10-CM E70.0 Classical phenylketonuria Approximate Synonyms Classical phenylketonuria Dihydropteridine reductase [icd9data.com]

Abstract An extract from a liver biopsy of a patient with classical phenylketonuria contains phenylalanine 4-hydroxylase (EC 1.14.3.1) with a specific activity 0.27% of the [ncbi.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

Huemer M, Huemer C, Moslinger D, et al: Growth and body composition in children with classical phenylketonuria: results in 34 patients and review of the literature. [doi.org]

Their clinical pictures were not typical for classical phenylketonuria. As a result, diagnosis was missed. [ncbi.nlm.nih.gov]

Maple Syrup Urine Disease

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]

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]

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]

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

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

Hyperphenylalaninemia

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

Cognitive functions in classic phenylketonuria and mild hyperphenylalaninaemia: experience in a paediatric population. Dev Med Child Neurol. 2005 Jul. 47(7):443-8. [emedicine.medscape.com]

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]

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]

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]

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]

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]

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

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

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]

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]

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]

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]

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]

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]

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]

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]

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]

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

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

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]

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]

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]

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]

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

See Mild phenylketonuria Variant PKU - See Mild phenylketonuria Varicella Embryopathy - See Congenital varicella syndrome Varicella virus antenatal infection - See Congenital [herenciageneticayenfermedad.blogspot.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]

Citrullinemia Type 2

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

Progress toward cell-directed therapy for phenylketonuria. Clinl Genet. 2008;74:97-104. Yi SHL, Singh RH. [nursingcenter.com]

Disorders August 2018 Amino Acid Disorders (ASA) Argininosuccinic Aciduria * (CIT) Citrullinemia, Type I * (HCY) Homocystinuria * (MSUD) Maple Syrup Urine Disease * (PKU) Classic [nbs.health.nd.gov]

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]