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- Title
A Novel Homozygous GALK1 Variant Combined With Cataract and Prolonged Jaundice.
- Authors
Ozler, Oguz; Egeli, Bugra Han; Zeybek, Selcan; Eris, Erdem; Teke Kisa, Pelin
- Abstract
The article offers information on galactosemia, an inborn error of carbohydrate metabolism caused by the deficiency of galactose-metabolizing enzymes. Topics include the enzymes involved, clinical manifestations, and a case presentation of GALK deficiency with an unreported novel GALK1 variant. The patient presented with cataracts and prolonged jaundice, leading to a lactose-restricted diet.
- Subjects
CATARACT diagnosis; CATARACT; THYROID gland function tests; GENETIC mutation; HEMOGLOBINS; SEQUENCE analysis; NEONATAL jaundice; ACUTE phase proteins; GALACTOSEMIA; GENETIC variation; LACTOSE intolerance; MEDICAL screening; INBORN errors of carbohydrate metabolism; BIRTH weight; INBORN errors of metabolism; URINALYSIS; CONSANGUINITY; EYE examination; DISEASE complications; CHILDREN
- Publication
Clinical Pediatrics, 2023, Vol 62, Issue 6, p537
- ISSN
0009-9228
- Publication type
Article
- DOI
10.1177/00099228221136120