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Phenylketonuria as related to Cri-du-chat syndrome


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Classical Phenylketonuria; Deficiency Disease, Phenylalanine Hydroxylase; Folling Disease; Phenylalanine Hydroxylase Def... 

5p Deletion Syndrome; 5p- Syndrome; Cat cry syndrome 

Phenylketonuria (PKU) is a human genetic disorder that occurs in about 1 in 15,000 births, but the incidence varies widely in different human populations from 1 in 4,500 births among the Irish to fewer than one in 100,000 births among the population of Finland.

Cri-du-chat (cat cry) syndrome is a chromosomal condition that results when a piece of chromosome 5 is missing. Infants with the condition often have a high-pitched cry that sounds like that of a cat. The disorder is characterized by severe mental retardation and delayed development, distinctive facial features, small head size (microcephaly), low birth weight, and weak muscle tone (hypotonia) in infancy.


Phenylketonuria as related to Cri-du-chat syndrome


  • Mental retardation: MedlinePlus Medical Encyclopedia
    Cri du chat syndrome. Galactosemia. Tay-Sachs disease. Phenylketonuria. Hunter syndrome ... Chromosome deletions (cri du chat syndrome) ...

  • Cri-du-Chat-Syndrome (Birth defects & disorders)
    Cri-du-Chat-Syndrome 0. Cryptorchidism 0. Cutis-Aplasia ... Phenylketonuria-(PKU) 0. Pierre-Robin-Sequence 0. Platyspondylic-Lethal-Skeletal-Dysplasia 0 ...

  • Genetic Disorders Research
    Marfan's Syndrome. Sickle Cell Anemia. Phenylketonuria. Color blindness ... Klinefelter Syndrome. Cri-du-chat Syndrome. Huntington's Disease ...

  • How to Get Rid of Phenylketonuria
    Pregnant women with phenylketonuria should maintain the phenylalanine level in ... Hurler Syndrome. Cri du chat Syndrome. Lesch-Nyhan syndrome ...

  • Mental Retardation - Symptoms, Diagnosis, Treatment of Mental ...
    Cri Du Chat Syndrome. Galactosemia. Tay-Sachs Disease. Phenylketonuria. Hunter Syndrome ... Chromosome deletions (cri du chat syndrome) ...

  • The Lili Claire Foundation
    Cri Du Chat (5p) Down Syndrome. Fragile X. Prader Wili. PKU (Phenylketonuria) Fetal Alcohol ... living with Williams syndrome and other neurogenetic disorders ...

  • The Bryn Mawr School Library
    Marfan's Syndrome. Sickle Cell Anemia. Phenylketonuria. Color ... The CaF Directory - CRI DU CHAT SYNDROME scientific; gives definition and signs of the disease ...

  • Mental Illness/Retardation - Diseases and Conditions ...
    Fragile X syndrome. Inborn errors of metabolism. Cri du chat syndrome. Sanfilippo syndrome. Phenylketonuria. Congenital hypothyroidism ...

  • AllRefer Health - Microcephaly: Common Causes
    Cri du Chat Syndrome. Down Syndrome. Methylmercury Poisoning. Phenylketonuria ... Down's syndrome. cri du chat syndrome. Seckel's syndrome. Rubinstein-Taybi syndrome ...

  • What are Genetic Disorders?
    Cri-du-Chat syndrome. Down Syndrome. Klinefelter Syndrome. Galactosemia. Cystic fibrosis ... Williams Syndrome. Phenylketonuria (PKU) Severe combined ...

  • Genetic Diseases in Humans
    Patau syndrome. Down syndrome. Turner syndrome. Klinefelter syndrome. Cri du chat syndrome. Phenylketonuria. Alkaptonuria. Galactosemia. Lesch-Nyhan syndrome ...

  • Eligibility and Referral
    Down Syndrome. Cri-du-Chat Syndrome. Klinefelter's Syndrome. Trisomy 18 (Edward's Syndrome) ... Congenital Heart Disease. PKU (phenylketonuria) Cerebral Palsy ...

  • Cri-du-chat Syndrome - MEDgle - search your symptoms ...
    Details about Cri-du-chat Syndrome. MEDgle is a medical and health search ... conditions, such as cri du chat ("cat's cry") syndrome or phenylketonuria (PKU) ...

  • Phenylketonuria: Symptoms and Treatment of Phenylketonuria
    Lesch-Nyhan syndrome. Rubella embryopathy. Tuberose Sclerosis (epiloia) Cri du chat Syndrome. Hydrocephalus. Neurofibromatosis (von Recklinghausen's syndrome) ...

  • 515chapter4
    Male chromosomal disorder - Fragile X - syndrome. Cri - du - chat - 5th pair chromosomal disorder ... Phenylketonuria (PKU) Phenylalanine. Prenatal ...

  • Microcephaly | LIVESTRONG.COM
    ... 18 Secondary Causes: Uncontrolled phenylketonuria ... Cri du chat syndrome. Cri du chat syndrome is a group of symptoms that result from missing a piece of ...

  • DoctorNDTV: Health Information on Mental Retardation
    Mental retardation (MR) has been defined as below average general intellectual functioning with associated deficits in ... syndrome, phenylketonuria, cri-du ...

  • AllRefer Health - Mental Retardation
    ... on a different chromosome than usual) and deletions (cri du chat syndrome) ... phenylketonuria. Hunter syndrome. Hurler syndrome. Sanfilippo syndrome ...

  • Mental retardation Information on Healthline
    Chromosome deletions (cri du chat syndrome) ... Ito Syndrome. Niemann-Pick Disease. Phenylketonuria. Pneumococcal Meningitis. Premature Babies ...

  • Sickle-Cell Anemia
    Marfan Syndrome. Fragile X syndrome. Phenylketonuria. Parkinson's ... Cri-du-chat Syndrome. Laron Syndrome. Galactosemia. Cleft Lip/Palate. Burkitt Lymphoma ...

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November 23, 2009


Page Updated: January 17, 2009
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