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238 Possible Causes for Blonde Hair, Phenylketonuria

  • Classical Phenylketonuria

    In addition to congenital anomalies and developmental delay, blond hair, fair skin and unusual urinary odor were noted.[] ), PHENYLKETONURIA, PKU, PKU - Phenylketonuria, phenylalaninemia, phenylketonuria (diagnosis), phenylketonuria, Phenylalaninemia, Phenylketouria, Phenylketonuria - pku, Phenylketonurias[] This may explain why persons with phenylketonuria generally have blond hair, blue eyes, and fair skin.[]

  • Phenylketonuria

    […] phenyl ketone New Latin -uria Learn More about phenylketonuria Resources for phenylketonuria Statistics for phenylketonuria More Definitions for phenylketonuria phe·nyl·ke[] This may explain why persons with phenylketonuria generally have blond hair, blue eyes, and fair skin.[] As a result, children with PKU often will have pale skin, blond hair and blue eyes.[]

  • Hyperphenylalaninemia

    There were four cases (40%) with 6-pyruvoyl-tetrahydropterin synthase deficiency, three with GTP cyclohydrolase I - autosomal recessive form deficiency, and three with dihydropteridine[] Due to a positive family history prenatal diagnosis for phenylketonuria was performed, revealing heterozygosity for classic phenylketonuria.[] Phenylketonuria and mild hyperphenylalaninemia were found to be allelic; certain pairs of alleles induced the more severe phenylketonuria phenotype, and other pairs induced[]

  • 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.[] 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[] […] 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[]

  • Homocystinuria

    In phenylketonuria, the L-arginine/NO pathway seems not be altered.[] The hereditary form features sparse blond hair, OSTEOPOROSIS with overgrowth of long bones, a hollowed chest, dislocation of the lenses of the eyes and mental retardation.[] Thromboembolic events (strokes) at any age Osteoporosis Cataract formation Retinal detachment Differential Diagnosis : Marfan's syndrome (upward dislocation of the lens) Phenylketonuria[]

  • Squamous Cell Carcinoma of the Skin

    People at the highest risk for developing basal cell carcinoma have fair skin, red or blond hair, and green, blue, or gray eyes.[] […] pigmentosum  basal cell nevus (Gorlin's) syndrome  epidermodysplasia verruciformis  Muir-Torre syndrome  Porokeratosis  Bazex syndrome  Rombo syndrome  Albinism  phenylketonuria[] Individuals with light-colored skin, freckled skin, blond hair, red hair, and light eyes have a greater risk for skin cancer.[]

  • Smith Lemli Opitz Syndrome

    The following disorders were identified: phenylketonuria, glucose-6-phosphatase deficiency, propionic acidemia, adenosine deaminase deficiency, Smith-Lemli-Opitz syndrome[] ., fragile X syndrome, phenylketonuria, chromosome 15q11-q13 duplication, and tuberous sclerosis), evidence for a genetic contribution includes increased recurrence risk in[]

  • Metabolic Disorder of Amino Acids

    Due to a decreased amount of the pigment melanin, persons with PKU tend to have lighter features, such as blond hair and blue eyes, than other family members who do not have[] Phenylketonuria (PKU) is an inherited metabolic disorder. Individuals having phenylketonuria do not have the ability to further metabolize phenylalanine.[] Medical foods made from glycomacropeptide have been used successfully for the management of phenylketonuria and tyrosinemia.[]

  • Uncombable Hair Syndrome

    Abstract Four children had short, unmanageable, pale blond hair. They had no associated abnormalities and no family histories of abnormal hair.[] Examples of metabolic disorders include galactosemia, glycogen storage disease, lysosomal storage disorders, metabolic acidosis, peroxisomal disorders, phenylketonuria, cytogenetics[] This syndrome is characterized by unruly, dry, blond hair with a tangled appearance.[]

  • Oculocutaneous Albinism, Type 2

    References Differential Diagnoses Dermatologic Manifestations of Homocystinuria Dermatologic Manifestations of Menkes Kinky Hair Disease Phenylketonuria Laboratory Studies[] The majority of affected individuals develop some cutaneous melanin; this is predominantly seen as yellow/blond hair, whereas fewer have brown hair.[] Their hair are usually pale blonde to golden or reddish-blonde hair. Having blue eyes is one of their common characteristics.[]

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