Classical phenylketonuria (PKU) and Goldenhar's syndrome were diagnosed in a six-month-old male infant who was referred to Hacettepe Children's Hospital for evaluation of developmental delay. [ncbi.nlm.nih.gov]

Progressive developmental delay and general learning disability are the usual modes of presentation in those not detected by screening. [patient.info]

However, if they are not treated or if their diets are not regulated for phenylalanine they may go on to show developmental delays and mental retardation. [news-medical.net]

Some children with phenylketonuria (PKU) have developmental delays. If you think that your baby is not meeting their developmental milestones, ask your baby’s doctor about the next steps in accessing a developmental evaluation and care. [babysfirsttest.org]

Classical phenylketonuria is caused by a severe deficiency of phenylalanine hydroxylase and presents in infancy with developmental delay; seizures; skin hypopigmentation; eczema; and demyelination in the central nervous system. [icd9data.com]

Phenylketonuria (PKU) is a treatable autosomal recessive condition which, without treatment, causes progressive mental retardation. It is due to the inherited deficiency of the enzyme phenylalanine hydroxylase (PAH). [clinicaladvisor.com]

Untreated individuals have very fair hair, eczema, a mousy odor of the urine and skin, and progressive mental retardation. Treatment consists of a diet low in phenylalanine. [medical-dictionary.thefreedictionary.com]

BACKGROUND: An increased susceptibility to infections has been observed in some patients with phenylketonuria (PKU), which is not well known whether it is due to alterations of plasma essential amino acid concentrations or to some other factors. [ncbi.nlm.nih.gov]

There had been epibulbar dermoids in his left eye, strabismus, bilateral multiple preauricular appendices, malar hypoplasia, micrognathia, hemifacial microsoma and high palatal vault. [ncbi.nlm.nih.gov]

Classical phenylketonuria is caused by a severe deficiency of phenylalanine hydroxylase and presents in infancy with developmental delay; seizures; skin hypopigmentation; eczema; and demyelination in the central nervous system. [icd9data.com]

The phenylalanine from that food remains in the person's system, however, and as Phe accumulates over time they may experience concentration, confusion and mood problems, as well as eczema and other symptoms. [checkorphan.org]

[…] small head size Increased activity in the child or behavioural problems Mental retardation and developmental delays Jerky movements of the legs and arms Tremors Abnormal movements of the hands and arms Seizures or epilepsy like features Skin rashes and eczema [news-medical.net]

Classical phenylketonuria is caused by a severe deficiency of phenylalanine hydroxylase and presents in infancy with developmental delay; SEIZURES; skin HYPOPIGMENTATION; ECZEMA; and demyelination in the central nervous system. [fpnotebook.com]

Persons with phenylketonuria are usually blue-eyed and blond with defective pigmentation; the skin is excessively sensitive to light and susceptible to eczema. [medical-dictionary.thefreedictionary.com]

In addition to congenital anomalies and developmental delay, blond hair, fair skin and unusual urinary odor were noted. Ferric chloride test on his urine sample was positive, and the plasma phenylalanine level was high (34 mg/dl). [ncbi.nlm.nih.gov]

This may explain why persons with phenylketonuria generally have blond hair, blue eyes, and fair skin. Phenylketonuria is transmitted by an autosomal recessive gene, which is present in about 1 in every 60 people. [britannica.com]

Signs of classic PKU include: Irritability Seizures (epilepsy) Dry, scaly skin (known as eczema) “Musty” or "mouse-like” body odor Pale hair and skin Developmental delays Many of these signs may occur when your baby eats foods that their body cannot break [babysfirsttest.org]

Abstract Indirect measurements have previously suggested that patients with classical phenylketonuria (PKU) do not convert significant amounts of phenylalanine to tyrosine. [ncbi.nlm.nih.gov]

This covering helps speed nerve impulses along the axon. [medical-dictionary.thefreedictionary.com]

This enzyme from a patient with phenylketonuria is a structurally altered form of phenylalanine 4-hydroxylase that probably results from a mutation in the gene coding for the hydroxylase. [ncbi.nlm.nih.gov]

Abstract An extract from a liver biopsy of a patient with classical phenylketonuria contains phenylalanine 4-hydroxylase (EC 1.14.3.1) with a specific activity 0.27% of the normal activity of the hydroxylase. [ncbi.nlm.nih.gov]