Phenylketonuria Causes & Reasons

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Patient File

Sex unknown, Age unknown

Reported Symptoms

Phenylketonuria,

Negated

None

Unsure

None

Possible Causes

Classical Phenylketonuria

PHENYLKETONURIA, PKU, PKU - Phenylketonuria, phenylalaninemia, phenylketonuria (diagnosis), phenylketonuria, Phenylalaninemia, Phenylketouria, Phenylketonuria - pku, Phenylketonurias [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]

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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]

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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]

[…] importance of neonatal screening is especially obvious in metabolic diseases that are not too rare and for which effective treatment depends upon an early diagnosis, such as phenylketonuria [books.google.ro]

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Tetrahydrobiopterin Deficiency

pyruvoyl tetrahydropterin synthase deficiency or PTPS deficiency. [symptoma.com]

BACKGROUND: Hyperphenylalaninemia (HPA) can be classified into phenylketonuria (PKU) which is caused by mutations in the phenylalanine hydroxylase (PAH) gene, and BH4 deficiency [ncbi.nlm.nih.gov]

Diagnosis and treatment of 6-pyruvoyl-tetrahydropterin synthase deficiency. Brain Dev 2000 ; 22[suppl 1] : S118 –S121 Schmidt H, Ullrich K, Korinthenberg R, Peters PE. [ajnr.org]

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Hyperphenylalaninemia

TY - JOUR T1 - 6-pyruvoyl-tetrahydropterin synthase deficiency with mild hyperphenylalaninemia. [wwww.unboundmedicine.com]

There were four cases (40%) with 6-pyruvoyl-tetrahydropterin synthase deficiency, three with GTP cyclohydrolase I - autosomal recessive form deficiency, and three with dihydropteridine [ncbi.nlm.nih.gov]

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

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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 More [merriam-webster.com]

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

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6-Pyruvoyl-Tetrahydropterin Synthase Deficiency

El-Hattab and Majid Alfadhel, 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency: Review and Report of 28 Arab Subjects, Pediatric Neurology, 10.1016/j.pediatrneurol.2019.02.008 [doi.org]

TY - JOUR T1 - 6-pyruvoyl-tetrahydropterin synthase deficiency with mild hyperphenylalaninemia. [wwww.unboundmedicine.com]

European Journal of Pediatrics 148(5): 450-452, 1989 6-pyruvoyl tetrahydropterin synthase deficiency: a case report. [eurekamag.com]

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Phenylalanine Increased

Editorial (1979) The growing problems of phenylketonuria. Lancet II: 1381–1383 Google Scholar 14. [link.springer.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]

External links [ edit ] Phenylketonuria at Curlie [en.wikipedia.org]

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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]

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Velocardiofacial Syndrome

Velocardiofacial syndrome is the most common microdeletion syndrome in humans. It is secondary to a chromosome 22q11 rearrangement and is characterized by craniofacial abnormalities, heart defects and learning disability. We report a case of a 10-year-old girl with a chromosome 22q11 deletion who, in addition to[…] [ncbi.nlm.nih.gov]

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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]

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Hyperlysinemia Type 1

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]

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]

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Disorder of Amino Acid Metabolism

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]

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

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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]

[…] or alcohol, became infected with a cytomegalovirus, rubella (German measles), or varicella (chicken pox) virus, was exposed to certain toxic chemicals, or had untreated phenylketonuria [web.archive.org]

Down syndrome Rubinstein-Taybi syndrome Seckel syndrome Smith-Lemli-Opitz syndrome Trisomy 18 Trisomy 21 Other problems that may lead to microcephaly include: Uncontrolled phenylketonuria [nlm.nih.gov]

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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]

Pyruvoyl-Tetrahydropterin Synthase Deficiency Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due To Pts Deficiency Pts Deficiency HPABH4A 261640 Genetic Test Registry [ukgtn.nhs.uk]

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

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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]

Phenylketonuria (PKU) Phenylketonuria (PKU) is an autosomal recessive metabolic genetic disorder due to a mutation in the phenylalanine hydroxylasegene gene. [courses.lumenlearning.com]

phenylketonuria maple syrup urine disease, glutaric acidemia type 1 Disorders of organic acid metabolism (organic acidurias) E.g., alcaptonuria Disorders of fatty acid [drshailja.com]

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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]

[…] strabismus, 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]

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2-Methylbutyryl-CoA Dehydrogenase Deficiency

· 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]

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]

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Pyridoxine Dependency Syndrome

Pyruvoyl-Tetrahydropterin Synthase Deficiency Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due To Pts Deficiency Pts Deficiency HPABH4A 261640 Genetic Test Registry [ukgtn.nhs.uk]

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

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

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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]

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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]

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Mental Retardation

Click the link for more information. ), screening and treatment for phenylketonuria phenylketonuria (PKU), inherited metabolic disorder caused by a deficiency in a specific [encyclopedia2.thefreedictionary.com]

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

In some cases, such as phenylketonuria and congenital hypothyroidism, special diets or medical treatments can help. [medicinenet.com]

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D-Glyceric Aciduria

Phenylketonuria Classification and external resources ICD 10 E70.0 ICD 9 … Wikipedia [medicine.academic.ru]

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

Abnormal tyrosine and phenylalanine metabolism in patients with tyrosyluria and phenylketonuria; gas-liquid chromatographic analysis of urinary metabolites. [scielo.br]

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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]

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Vitamin B12 Deficiency

PURPOSE: The objective of the study was to determine the incidence of vitamin B12 deficiency in patients under long-term treatment for phenylketonuria (PKU) and hyperphenylalaninemia [ncbi.nlm.nih.gov]

Strictly vegetarian/vegan/macrobiotic diet Breastfeeding by a mother with an untreated vitamin B12 deficiency, or by a mother following one of the above diets Untreated phenylketonuria [stichtingb12tekort.nl]

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Tyrosine Increased

Abstract The outcome in maternal phenylketonuria (PKU) is variable (Lenke and Levy, 1980; Murphy et al ., 1985). [link.springer.com]

There are 4 autosomal-recessive disorders associated with BH4 deficiency plus hyperphenylalaninemia; guanosine triphosphate cyclohydrolase deficiency, 6-pyruvoyl tetrahydropterine [mayomedicallaboratories.com]

Large doses of tryptophan and tyrosine as potential therapeutic alternative to dietary phenylalanine restriction in phenylketonuria. [sohf.nl]

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Hyperglycinuria

Pyruvoyl-Tetrahydropterin Synthase Deficiency Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due To Pts Deficiency Pts Deficiency HPABH4A 261640 Genetic Test Registry [ukgtn.nhs.uk]

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

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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 [gdnm.nl]

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Disorder of Sulfur-Bearing Amino Acid Metabolism

phenylketonuria. (05 Mar 2000) inborn errors of metabolism Term coined by A. Garrod in 1908 applying to heritable disorders of biochemistry. [kmle.co.kr]

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

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

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Metabolic Disease

The main groups by type of disorder are as follows: Small molecule IEMs These affect the intermediary metabolism, which is the case for amino acid diseases (phenylketonuria [sjdhospitalbarcelona.org]

Within 48 hours of birth, all babies are screened for more than 40 inborn errors of metabolism including the following : Phenylketonuria (PKU) Maple Syrup Urine Disease (MSUD [urmc.rochester.edu]

sialidosis Angiokeratoma Fabry, fucosidosis, galactosialidosis, beta-mannosidosis, sialidosis Dermatitis Biotinidase deficiency, Hartup disease, phenylketonuria, prolidase [content.iospress.com]

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