Title : Novel mutation in carnitine palmitoyltransferase 1A detected through newborn screening for a presymptomatic case in China: a case report.

Pub. Date : 2021 Jul 7

PMID : 34233743






2 Functional Relationships(s)
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Protein Name
Organism
1 BACKGROUND: Carnitine palmitoyltransferase 1A (CPT1A) deficiency is a rare mitochondrial fatty acid oxidation (FAO) disorder that results in hypoketotic hypoglycemia and hepatic encephalopathy. Fatty Acids carnitine palmitoyltransferase 1A Homo sapiens
2 BACKGROUND: Carnitine palmitoyltransferase 1A (CPT1A) deficiency is a rare mitochondrial fatty acid oxidation (FAO) disorder that results in hypoketotic hypoglycemia and hepatic encephalopathy. Fatty Acids carnitine palmitoyltransferase 1A Homo sapiens