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Phenylketonuria

 Syn. PKU

Signs & Symptoms

 Positive Family history of Phenylketonuria
Note: 25% Risk of recurrence of PKU in future pregnancies
Ref: Uptodate [ Overview of phenylketonuria] Epocrates [ Phenylketonuria]
Premature delivery (negative symptom)
Ref: Epocrates [ Phenylketonuria]
Positive newborn screening of metabolic disorders
Ref: Epocrates [ Phenylketonuria]
Loss of motor function
Ref: Uptodate [ Overview of phenylketonuria]

Physical Examination

 Positive heel-prick test
Ref: Epocrates [ Phenylketonuria]
Small size (negative symptom)
Ref: Epocrates [ Phenylketonuria]
Movement disorders
Ref: Epocrates [ Phenylketonuria]

Lab / Serology

 Tetrahydrobiopterin BH4 deficiency
Note: due to BH4-responsive
Ref: Uptodate [ Overview of phenylketonuria] Epocrates [ Phenylketonuria]
DHPR deficiency (negative symptom)
Ref: Epocrates [ Phenylketonuria]
Increase phenylacetate
Ref: Uptodate [ Overview of phenylketonuria] Epocrates [ Phenylketonuria]

Imagin Study

 White matter injury
Ref: Uptodate [ Overview of phenylketonuria]
Increase of T2-weighted
Ref: Uptodate [ Overview of phenylketonuria]
Low Bone mineral density
Note: Not appear to be clinically significant
Ref: Uptodate [ Overview of phenylketonuria]

Complication

 Sitting posture abnormality
Ref: Uptodate [ Overview of phenylketonuria]
Loss of motor function
Ref: Uptodate [ Overview of phenylketonuria]
Visual abnormality
Ref: Uptodate [ Overview of phenylketonuria]

Risk Factors

 White race
Ref: Epocrates [ Phenylketonuria]

Cause

 Increase phenylacetate
Ref: Uptodate [ Overview of phenylketonuria] Epocrates [ Phenylketonuria]
Accumulation phenyl ketones
Ref: Epocrates [ Phenylketonuria]
Increase phenyllactate
Ref: Uptodate [ Overview of phenylketonuria] Epocrates [ Phenylketonuria]

Other