Prenatal molecular diagnosis of pyruvate dehydrogenase complex deficiency enables rapid initiation of ketogenic diet.

Autor: Bowen AB; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Rapalino O; Department of Radiology, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts, USA., Jaimes C; Department of Radiology, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts, USA., Ratai EM; Department of Radiology, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts, USA., Zhong Y; Department of Neurology, Child Neurology Division, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts, USA., Thiele EA; Department of Neurology, Child Neurology Division, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts, USA., Kritzer A; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Ganetzky RD; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA., Gold NB; Division of Medical Genetics and Metabolism, Department of Pediatrics, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts, USA., Walker MA; Department of Neurology, Child Neurology Division, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Jazyk: angličtina
Zdroj: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Dec; Vol. 194 (12), pp. e63825. Date of Electronic Publication: 2024 Jul 26.
DOI: 10.1002/ajmg.a.63825
Abstrakt: Pyruvate dehydrogenase complex deficiency (PDCD) is a mitochondrial disorder of carbohydrate oxidation characterized by lactic acidosis and central nervous system involvement. Knowledge of the affected metabolic pathways and clinical observations suggest that early initiation of the ketogenic diet may ameliorate the metabolic and neurologic course of the disease. We present a case in which first trimester ultrasound identified structural brain abnormalities prompting a prenatal molecular diagnosis of PDCD. Ketogenic diet, thiamine, and N-acetylcysteine were initiated in the perinatal period with good response, including sustained developmental progress. This case highlights the importance of a robust neurometabolic differential diagnosis for prenatally diagnosed structural anomalies and the use of prenatal molecular testing to facilitate rapid, genetically tailored intervention.
(© 2024 Wiley Periodicals LLC.)
Databáze: MEDLINE
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