Gamuts

Phenylketonuria

Phenylketonuria (PKU) is an inborn error of metabolism that results in decreased metabolism of the amino acid phenylalanine. Untreated, PKU can lead to intellectual disability, seizures, behavioral problems, and mental disorders. [Source: Wikipedia ]

Synonyms
PKU
OrphaNet reference
Phenylketonuria 
Classical phenylketonuria 
May Cause
Anophthalmia
Anterior beaked vertebrae in a child
Anterior beaked vertebral body
Basal ganglion calcification
Congenital generalized osteoporosis
Degenerative and metabolic disorders
Delayed bone age
Dense vertical metaphyseal lines
Eczema
Encephalopathy
Generalized wide epiphyseal plate
Hypotelorism
Intracranial calcification
Leukodystrophy / leukoencephalopathy
Longitudinal metaphyseal-diaphyseal striations
Metaphyseal cupping
Microphthalmia
Multiple sclerotic foci in an infant or child
Retarded skeletal maturation
Skin rash
Wide metaphysis
May Be Caused by
Dihydropteridine reductase deficiency

Copyright © 2022, Charles E. Kahn, Jr., MD, MS
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