A very rare cause of hypertrygliseridemia in infancy: a novel mutation in glycerol-3-phosphate dehydrogenase 1 (
GPD1
hepatic steatosis
transient infantile hypertriglyceridemia
Journal
Journal of pediatric endocrinology & metabolism : JPEM
ISSN: 2191-0251
Titre abrégé: J Pediatr Endocrinol Metab
Pays: Germany
ID NLM: 9508900
Informations de publication
Date de publication:
26 Jul 2023
26 Jul 2023
Historique:
received:
04
02
2023
accepted:
03
05
2023
medline:
10
7
2023
pubmed:
22
5
2023
entrez:
22
5
2023
Statut:
epublish
Résumé
Transient infantile hypertriglyceridemia (HTGTI) is caused by mutations in the glycerol-3-phosphate dehydrogenase 1 ( A 2-month-27-day-old boy, who had growth retardation, hepatomegaly and anemia suffered to our hospital with vomiting. Triglyceride level was 1603 mg/dL (n<150). Liver transaminases were elevated and hepatic steatosis was developed. He needed transfusion with erythrocyte suspension until 6th month. Etiology could not be elucidated by clinical and biochemical parameters. A novel homozygous c.936_940del (p.His312GlnfsTer24) variant was detected in the GPD1 deficiency should be investigated in the presence of unexplained hypertriglyceridemia and hepatic steatosis in children especially in infants.
Identifiants
pubmed: 37211761
pii: jpem-2023-0053
doi: 10.1515/jpem-2023-0053
doi:
Substances chimiques
Glycerolphosphate Dehydrogenase
EC 1.1.-
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Pagination
704-707Informations de copyright
© 2023 Walter de Gruyter GmbH, Berlin/Boston.
Références
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