Community Discussion Forum New to Looking for info on Mild PKU or BH4 Deficiency

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    Avatar of Misty


    I am new here. My daughter has had some strange symptoms since her birth and her pediatrician is stumped so we have an appointment to see a neurologist is a few months. Here is a list of her problems:

    Duplex kidneys, ureters Persistent Pulmonary Hypertension Asymmetrical ventricles Difficulty swallowing, suckling as infant Delayed gross motor. Walked at 18 Months, still toddles Musty smelling dark yellow urine, sweat Anxiety, fear,  Decreased tooth enamel Sleepy Fair skin, eyes, hair Mild eczema, dermatitis  Leg cramps  Hospitalized for croup/reflux 9/10  The internet search for bad smelling urine brought me to PKU and it seems like she could have a mild form of it. Since she was transfered between hospitals when she was born I am having difficulty finding the results to her newborn screen.  Any thoughts or advice are welcome. She is 2.5 right now and a happy girl. She depends on me a lot to hold her beacuse she gets tired of walking very quickly and she is becomeing more fearful.   Thanks

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