Case of GPD1 deficiency causing hypertriglyceridaemia and non-alcoholic steatohepatitis.
Leo PolcharPramodh VallabhaneniPublished in: BMJ case reports (2022)
We report a case of a young girl of South Asian descent presented with faltering growth, hepatomegaly, hypertriglyceridaemia and raised transaminases. Subsequent ultrasound scans identified fatty infiltration in her liver, and a liver biopsy showed fibrosis and steatosis. The patient's serum triglycerides normalised without intervention by the age of 28 months. At age 6, whole-exome sequencing of the patient's genome identified novel homozygous variants in the glycerol-3-phosphate dehydrogenase 1 ( GPD1 ) gene, GPD1 c.500G>A (p.Gly167Asp), leading to a diagnosis of GPD1 deficiency.
Keyphrases
- case report
- copy number
- randomized controlled trial
- genome wide
- computed tomography
- magnetic resonance imaging
- ultrasound guided
- insulin resistance
- replacement therapy
- high fat diet
- liver injury
- adipose tissue
- middle aged
- high density
- transcription factor
- high fat diet induced
- genome wide identification
- contrast enhanced
- contrast enhanced ultrasound
- genome wide analysis