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Article

A patient with atypical presentation of chronic hepatosteatosis harboring a novel variant in the CPT1A gene.

European journal of medical genetics - 1 Jan 2021

Boonsimma Ponghatai, Crosby Kathleen, Mohan Parvathi, Puscasiu Elena, Tanpaiboon Pranoot

Abstract excerpt

Carnitine palmitoyltransferase 1A (CPT1A) deficiency is a rare disorder of hepatic long-chain fatty acid oxidation. Most patients with CPT1A deficiency present with hypoketotic hypoglycemia and hepatic encephalopathy. We describe an atypical case of an 8-year-old male with CPT1A deficiency presenting with chronic liver steatosis and cirrhosis. He also had a history of developmental delay, autism spectrum...

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Source

Identifiers

PMID: 32781271
DOI: 10.1016/j.ejmg.2020.104034

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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