This report presents the first case where an infant with tetrahydrobiopterin deficiency has been identified by screening of newborns with hyperphenylalaninemia for tetrahydrobiopterin deficiency. [ncbi.nlm.nih.gov]

Ten cases of atypical phenylketonuria are presented: 8 of the defect of 6-pyrogronyl-tetrahydropterin synthase, 1 of dihydropteridine reductase, 1 of GTP cyclohydrolase. In 7 cases the diagnosis was confirmed by molecular studies. [pubfacts.com]

The classical presentation is a progressive encephalopathy in children who have appeared to be normal for the first few months of life. [jn.nutrition.org]

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

At present, conventional methods are not able to delineate the molecular basis of the mutations in PKU patients. DNA analysis might in future visualize the different genotypes, but might not solve the problem of therapeutic decision. [link.springer.com]

• Severe Clinical Course

  The secondary deficiency of neurotransmitters - dopamine and serotonin is the reason of very severe clinical course and brain damage. [pubfacts.com]

• Overeating

  Includes over 100 illustrations and photos of specific genetic disorders; tables and figures on the distribution of disease; and an extensive appendix listing associations, organizations, and websites relevant to genetics. [books.google.com]

  For Leu over the range 73.7–429 μmol/L (n 9), they were: slope 0.95 (SE 0.02); intercept 7.30 (SE 9.25); r 0.9883; RMSE 0.30. [clinchem.aaccjnls.org]

  A person with classical PKU has phe levels over 20 mg % (1200 micromoles per liter). Atypical or moderate PKU is characterized by one severe mutation and 1 mild mutation. [pkuadults.tripod.com]

  There were no data to suggest whether treatment with sapropterin allows meaningful changes in dietary restrictions for some patients over the long term, or in patients uncontrolled using a Phe-restricted diet. [pbs.gov.au]

  […] dietician (Sharon) about diet questions or concerns and us about questions concerning the genetics of PKU Molecular Genetic Testing used primarily for genetic counseling purposes to determine carrier status of at-risk relatives and for prenatal testing Over [en.wikibooks.org]

• Muscle Hypotonia

  A patient with atypical phenylketonuria (defective BH2 synthesis), detected at age 6 months because of severe muscle hypotonia and serum phenylalanine of 20 mg/100 ml, had normal activities of phenylalanine-4-hydroxylase and DHPR in liver biopsy, but [ncbi.nlm.nih.gov]

• Irritability

  Eczema Fatigue Tremors Headaches Irritability Poor concentration Depression Anxiety Decrease in intelligence (IQ) Seizures in infants left untreated for a prolonged amount of time Cognitive impairment in infants left untreated for a prolonged amount of [peaceloveandpku.wordpress.com]

  Geneva Briggs, “Calming An Irritable Bowel With Supplements,” PharmCon, Inc. supplemental slides to Knowledge-Based Live Webinar, Release date May 28, 2015 9. Bruce P. Burnett, Robert M. [raredr.com]

  Children are restlessness and irritability high and may suffer seizures among other symptoms. So if the exams is required for all newborns, often made in the first 24 hours of life or within seven days postpartum. [mundodabiologia.com]

  Usually they’re pretty good early readers and don’t have troubles in that area, and sometimes there’s irritability, and most of these symptoms are related to higher blood phenylalanine levels. [patientpower.info]

  The typical (severe) forms of GTPCH, PTPS, and DHPR deficiencies have the following variable, but common, symptoms: mental retardation Convulsions disturbance of tone and posture drowsiness irritability abnormal movements recurrent hyperthermia without [en.wikibooks.org]

• Liver Biopsy

  A patient with atypical phenylketonuria (defective BH2 synthesis), detected at age 6 months because of severe muscle hypotonia and serum phenylalanine of 20 mg/100 ml, had normal activities of phenylalanine-4-hydroxylase and DHPR in liver biopsy, but [ncbi.nlm.nih.gov]

In 8 children pharmacological treatment was implemented without limitation of dietary intake of phenylalanine. Treatment period was from 9 months to 18.5 years. Treatment effectiveness is differentiated and independent of the age of diagnosis. [pubfacts.com]

Abstract Atypical phenylketonuria among infants with hyperphenylalaninemia must be promptly diagnosed and differentiated from classical phenylketonuria, because these patients require different treatment to prevent irreversible neurological damage. [ncbi.nlm.nih.gov]

Assessment for treatment Serial monitoring of blood phenylalanine levels (weekly for the first 2 or 3 y of life declining to monthly by the age of 7–8 y) is an essential element of treatment. [jn.nutrition.org]

Atypical phenylketonuria accompanied by a severe progressive neurological illness unresponsive to dietary treatment. Arch. Dis. ‏ [books.google.com]

This requires closer supervision in the first months of treatment. It is speculated that dietary restrictions will be eased by pre-school age, but that females with atypical phenylketonuria will again require dietary restrictions when pregnant. [adc.bmj.com]

They differ from classical phenylketonuria in their greater tolerance to dietary phenylalanine and better prognosis for future intelligence. The arguments for dietary restrictions in these infants are discussed and their dietary management outlined. [adc.bmj.com]

Outcome : In treated PKY, prognosis is usually good, with normal intelligence. [emilytam.com]

ADOLESCENTI CON SINDROME DI TURNER E MENARCA SPONTANEO: CORRELAZIONE CON CARIOTIPO, PARAMETRI ORMONALI E IMAGING PELVICA Proceedings Vai 2012 ADIPONECTIN, LEPTIN, RESISTIN LEVELS IN CYSTIC FIBROSIS ADOLESCENTS Articolo su rivista Vai 2012 DIAGNOSI E PROGNOSI [unipa.it]

risk, point in disease progression, diagnostic or prognosis criteria), and with sufficient detail and without omitting criteria critical to the study? Yes 2.2. Were criteria applied equally to all study groups? Yes 2.3. [andeal.org]

Prognosis Early newborn screening, careful monitoring, and a life-long strict dietary management can help PKU patients to live normal, healthy, and long lives. Resources Books Brust, John C. M. [medical-dictionary.thefreedictionary.com]

Etiology The disorder is caused by certain mutations in the PAH gene (12q22-q24.2) which result in slightly higher residual enzyme activity and less need to comply strictly to a low phenylalanine diet in comparison to classic phenylketonuria (see this [orpha.net]

"Phenylalanine assembly into toxic fibrils suggests amyloid etiology in phenylketonuria". Nature Chemical Biology. 8 (8): 701–6. doi : 10.1038/nchembio.1002. PMID 22706200. Surtees R, Blau N (2000). "The neurochemistry of phenylketonuria". [en.wikipedia.org]

Summary Epidemiology Prevalence of this form is unknown. Clinical description Patients with blood phenylalanine concentrations of 600-1,200 micromol/L are considered to have mild PKU. [orpha.net]

Genatlas disease for QDPR Gene hyperphenylalaninemia,malignant phenylketonuria with neurologic deterioration Relevant External Links for QDPR Genetic Association Database (GAD) QDPR Human Genome Epidemiology (HuGE) Navigator QDPR Atlas of Genetics and [genecards.org]

(Not Applicable for some epidemiological studies) Yes 2. Did the authors study an outcome (dependent variable) or topic that the patients/clients/population group would care about? Yes 3. [andeal.org]

Linguistic Variant - Portuguese, Brazil) 2015AB LNC-RU-RU (LOINC Linguistic Variant - Russian, Russia) 2015AB LNC-TR-TR (LOINC Linguistic Variant - Turkish, Turkey) 2015AB LNC-ZH-CN (LOINC Linguistic Variant - Chinese, China) 2015AB MCM (Glossary of Clinical Epidemiologic [doctor.am]

Pathophysiology Phenylketonuria (PKU), an aminoaciduria, is characterized by an absence or severe deficiency of phenylalanine hydroxylase, the enzyme that hydroxylates phenylalanine to tyrosine. PKU is inherited as an autosomal recessive trait. [epilepsy.com]

The pathophysiologic mechanisms that are thought to cause central nervous system damage are discussed. New FDA-approved treatments and treatments in trial are revolutionizing the treatment of phenylketonuria in the 21st century. [medlink.com]

Abstract Atypical phenylketonuria among infants with hyperphenylalaninemia must be promptly diagnosed and differentiated from classical phenylketonuria, because these patients require different treatment to prevent irreversible neurological damage. [ncbi.nlm.nih.gov]

Updated health promotion content includes Health Promotion boxes focusing on preventive strategies for achieving prenatal wellness, health during pregnancy, postnatal health, and pediatric illness prevention and wellness -- including the complete immunization [books.google.com]

A lifelong follow-up is recommended for PKU women to prevent for maternal PKU. [jn.nutrition.org]

A diet low in phenylalanine has been proven to prevent neurological and intellectual deterioration, if initiated in early infancy. [chdbabies.com]

NCI_CTEP-SDC (Cancer Therapy Evaluation Program - Simple Disease Classification) 2015AB NCI_CareLex (Content Archive Resource Exchange Lexicon) 2015AB NCI_DCP (NCI Division of Cancer Prevention Program) 2015AB NCI_DICOM (Digital Imaging Communications [doctor.am]