Systemic Primary Carnitine Deficiency Presenting With Substantia Nigra and Basal Ganglia Injury: A Case Report

Systemic Primary Carnitine Deficiency Presenting With Substantia Nigra and Basal Ganglia Injury: A Case Report

ABSTRACT Systemic primary carnitine deficiency (SPCD) is a rare congenital fatty acid metabolism disorder causing impaired β‐oxidation and energy production, leading to hypoglycemia, metabolic encephalopathy, and sudden death. Early diagnosis and treatment, including L‐carnitine supplementation and...

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Main Authors: Tomoki Saito, Kento Soma, Mai Kashisaka, Kiiko Iketani, Masaaki Matsumoto, Takuya Ueda, Masahiro Nishiyama, Azusa Maruyama, Ryosuke Nakai, Hiroshi Sakihama, Hiroshi Kurosawa, Naoya Morisada, Hironori Kobayashi, Kayo Ozaki
Format: Article
Language:English
Published: Wiley 2025-05-01
Series:JIMD Reports
Subjects:
dystonia
hypoketoic hypoglycemia
L‐DOPA
metabolic encephalopathy
systemic primary carnitine deficiency
Online Access:https://doi.org/10.1002/jmd2.70014
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https://doi.org/10.1002/jmd2.70014

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