Hearing and metabolic diseases in the image of galactosaemia - case report

• Main Author: Eva Stryková
• Format: Article
• Language: ces
• Published: Association of Speech-Language Pathologists of Czech Republic 2020-12-01
• Series: Listy klinicke logopedie
• Subjects: hereditary metabolic disorder (hmd); galactosaemia; neonatal screening; hearing; symptoms; aetiology; clinical speech therapist
• Online Access: https://casopis.aklcr.cz/en/artkey/lkl-202002-0003_hearing-and-metabolic-diseases-in-the-image-of-galactosaemia-case-report.php

Metabolic processes are related by their functions to all life processes of the organism. In recent years, the spectrum of newly discovered types of metabolic defects has expanded. Their diagnosis is being refined and an increasing number of neonatal screenings reveals new patients. The importance of the wide and diverse problematics related to hereditary metabolic disorders (HMD) is now gradually becoming known to other health professionals. Due to emancipating patient groups, they are being brought to the awareness of at-risk groups and laymen. Manifestations of metabolic diseases are often associated with multisystem disorders (nerves, blood vessels, brain, heart, liver, muscles, bones, skin, etc.), including sensory systems (sight, hearing). The depth, extent, and especially the diversity of the development of HMD symptoms and their variability over time, challenge physicians and outpatients to consider the possible aetiology of HMD in particular when investigating non-specific symptoms of clinical manifestations. A Clinical Speech Therapist can also contribute to the identification of possible metabolic conditions in the impairment of the hearing system by capturing the spectrum of symptoms and the dynamics of development.