What is PHENYLKETONURIA (PKU)?

1:5000 - 1:12500 autosomal recessive mutations in the PAH gene phenylalanine concentrations in plasma: - classical PKU: > 20 mg/dl - mild PKU: 10-20 mg/dl - Hyperphenylalaninemia (HPA): < 10 mg/dl

Gibt es eine deutsche Bezeichnung?

PKU [Phenylketonurie]; Phenylalanin-Hydroxylase-Mangel

Which enzymes are involved?

phenylalanine hydroxylase (PAH)

PHENYLKETONURIA (PKU)

Q: Gibt es eine deutsche Bezeichnung?

PKU [Phenylketonurie]; Phenylalanin-Hydroxylase-Mangel

Q: Which enzymes are involved?

phenylalanine hydroxylase (PAH)

Disease	PHENYLKETONURIA (PKU)
Synonym	HYPERPHENYLALANINEMIA, MILD, INCLUDED; HPA, INCLUDED
OMIM	261600 OMIM = Online Mendelian Inheritance of Men
Orphanet	716
Protein (UniProt)	phenylalanine hydroxylase (PAH)
ExPASy	1.14.16.1
Gene locus	12q23.2 Detail information to gene locus by the National Center for Biotechnology Information NCBI: Phenylalanine hydroxylase
ICD	E70.1
Summary	1:5000 - 1:12500 autosomal recessive mutations in the PAH gene phenylalanine concentrations in plasma: - classical PKU: > 20 mg/dl - mild PKU: 10-20 mg/dl - Hyperphenylalaninemia (HPA): < 10 mg/dl
Laboratory findings	2-Hydroxyphenylacetic acid inc (urine) 3-Phenyllactic acid inc (urine) Phenylacetic acid inc (urine) Phenylalanine inc (plasma) Phenylalanine/Tyrosine inc (plasma) Phenylpyruvic acid inc (urine) Phenylalanine inc (urine) 4-Hydroxyphenyllactic acid inc (urine) 5-Hydroxyindolacetic acid (5-HIAA) normal/dec (cerebrospinal fluid) Biopterin inc (urine) D-Mannitol normal/inc (urine) Ferric chloride reaction (urine) Homovanillic acid (HVA) normal/dec (cerebrospinal fluid) L-Tyrosine decreased (urine) N-Acetylphenylalanine inc (urine) Neopterin inc (urine) Phenylalanine inc (cerebrospinal fluid)
Symptoms	intellectual disability/intellectual developmental disorder mousy body odor blue eyes fair hair behavior, autism or autistic-like decreased body height embryopathy hypertonia, spasticity hypopigmentation irritability low birthweight (small for gestational age) microcephaly (<2 SD for age) pigmentation, skin and sclera seizures skin rash, eczematous or seborrhoic unusual odor / odour vomiting Amino acids, plasma behavior, hyperactive, restless EEG abnormalities [-] epilepsy leukodystrophy mental retardation MRI, brain, white matter abnormalities [-] onset, childhood onset, infancy onset, neonatal Organic acids, urine small for gestational age (SGA), intrauterine growth retardation (IUGR)