Maple syrup urine disease encephalopathy: a follow-up study in the acute stage using diffusion-weighted MRI

The newborn presenting with neurological symptoms such as seizures or lethargy due to inborn error of metabolism is an important problem. Maple syrup urine disease (MSUD) is an inherited genetic disease, caused by a deficiency of the catalytic components of α-ketoaciddehydrogenase complex, which is responsible for the catabolism of branched-chain amino acids. The purpose of this case report is to show diffusion-weighted imaging (DWI) MRI findings of acute phase of classic form of MSUD in a newborn although this imaging findings are rare but very typical, known as “MSUD oedema”. DOI: http://dx.doi.org/10.3126/jnps.v33i3.8365 J. Nepal Paediatr. Soc. 2013;33(3):230-233

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Age Dependence of Diffusion-Weighted Magnetic Resonance Imaging Findings in Maple Syrup Urine Disease Encephalopathy

Journal of Computer Assisted Tomography ◽

10.1097/01.rct.0000164667.65648.72 ◽

2005 ◽

Vol 29 (4) ◽

pp. 524-527 ◽

Cited By ~ 11

Author(s):

Mio Sakai ◽

Yusuke Inoue ◽

Hiroshi Oba ◽

Akira Ishiguro ◽

Kyoko Sekiguchi ◽

...

Keyword(s):

Magnetic Resonance Imaging ◽

Magnetic Resonance ◽

Maple Syrup Urine Disease ◽

Imaging Findings ◽

Age Dependence ◽

Resonance Imaging ◽

Maple Syrup ◽

Diffusion Weighted ◽

Weighted Magnetic Resonance Imaging ◽

Urine Disease

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Investigation of L-Carnitine Concentrations in Treated Patients with Maple Syrup Urine Disease

Journal of Pediatric Genetics ◽

10.1055/s-0039-1691789 ◽

2019 ◽

Vol 08 (03) ◽

pp. 133-136

Author(s):

Burcu Kumru ◽

Burcu Oztürk Hismi

Keyword(s):

Maple Syrup Urine Disease ◽

Antioxidant Properties ◽

Maple Syrup ◽

Atp Production ◽

Control Subjects ◽

Healthy Control ◽

Urine Disease ◽

Branched Chain ◽

Ketoacid Dehydrogenase

AbstractMaple syrup urine disease (MSUD), also known as branched-chain α ketoaciduria, is a metabolic disorder caused by an inborn deficiency in the activity of the branched-chain α-ketoacid dehydrogenase complex. Severe neurological damage occurs in most patients with MSUD although the exact mechanism of neurotoxicity still remains unknown. Studies have suggested that neuropathology in patients with MSUD may be related to oxidative stress. L-carnitine mediates the transport of fatty acids into the mitochondria that are required for β-oxidation and ATP production. Along with the important roles it plays in lipid metabolism, L-carnitine also protects tissues from oxidative damage through its antioxidant properties. The study included a total of 15 patients with MSUD who attended regular follow-up visits, and 15 age-matched healthy control subjects, and aimed to investigate L-carnitine levels in treated patients with MSUD and healthy control subjects. L-carnitine levels were found to be significantly lower in the patient group than in the healthy controls. No significant correlation was identified between the plasma branched-chain amino acids leucine, isoleucine, valine, and L-carnitine levels. Patients with MSUD can be treated with adjuvant therapy with L-carnitine supplementation.

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