Lathosterolosis - A Rare Treatable Cause for Global Developmental Delay, Cataract, and Liver Dysfunction Masquerading as Galactosemia

Indian J Pediatr. 2023 Aug;90(8):837. doi: 10.1007/s12098-023-04623-8. Epub 2023 Apr 21.

Authors

Vykuntaraju K Gowda¹, Varunvenkat M Srinivasan², Uddhav Kinhal²

Affiliations

¹ Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Near NIMHANS, Bengaluru, 560029, Karnataka, India. drknvraju08@gmail.com.
² Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Near NIMHANS, Bengaluru, 560029, Karnataka, India.

PMID: 37083887
DOI: 10.1007/s12098-023-04623-8

No abstract available

Publication types

Letter

MeSH terms

Cataract* / diagnosis
Galactosemias* / complications
Humans
Infant, Newborn
Infant, Newborn, Diseases*
Liver Diseases*
Steroid Metabolism, Inborn Errors* / complications

Supplementary concepts

Lathosterolosis