Definition
Lowe syndrome is an X-linked recessive disorder characterized by congenital cataracts, renal tubular acidosis, and neurological disorders.
Symptoms
- Congenital cataracts
- Renal tubular acidosis
- Developmental delay
- Hypotonia
Reasons
OCRL gene mutation.
Diagnosis
Clinical findings, genetic testing.
Treatment
Multidisciplinary approach.
Which Polyclinic Should You Apply To?
Metabolism Polyclinic
What to Do in an Emergency?
In case of metabolic acidosis, emergency services should be consulted.
This page is for general information purposes only.