Mild hyperphenylalaninemia (hpa) presenting as orthostatic tremor: a case report.

ABSTRACT:

Background

Orthostatic tremor (OT) is a type of postural tremor of the lower extremities that has not been described in either phenylketonuria (PKU) or hyperphenylalaninemia (HPA). Because little is known about the clinical features and therapeutic responses of OT in mild HPA, we describe a mild HPA patient who presented with OT as an initial symptom.

Case presentation

A 22-year-old male was admitted for bilateral leg tremor while standing, with symptom onset eight months prior. One month before admission, the tremor disappeared in the left leg but persisted in the right leg. Electromyography recorded from the right gastrocnemius revealed a 6-8 Hz tremor, which appeared when the patient was standing and disappeared when he was resting or walking. Blood screening showed a phe

SUBMITTER: Li H 

PROVIDER: S-EPMC9635091 | biostudies-literature | 2022 Nov

REPOSITORIES: biostudies-literature