CASE STUDY MSUD

Leave this field empty. Most patients treated within a few days from the onset of symptoms survive and may not develop any residual neurological deficits. Diet is, in most cases, sufficient to control clinical sequelae of MSUD. This case study also emphasizes the importance of cognitive and behavioral monitoring of metabolic changes in MSUD patients. A case study of maple syrup urine disease, dietary treatment and neuropsychological performance.

Exclusive breast feeding may delay the onset to the second week of life. The patient’s newborn screenings were abnormal, showing elevated BCAAs. Neuropsychiatry, Neuropsychology and Behavioral Neurology , 5 1 , There must be ways to screen for this disease as well. AB – This case study describes the developmental history and behavioral and neuropsychological sequelae of maple syrup urine disease MSUD in an year-old male. This case study also emphasizes the importance of cognitive and behavioral monitoring of metabolic changes in MSUD patients. Kathait , Paulo Puac , and Mauricio Castillo.

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case study msud

T2-weighted images show extensive edema involving the bilateral cerebellar white matter Abrain stem, Band posterior limbs of internal capsules arrows on C up to the centrum semiovale D. National Center for Biotechnology InformationU. He was brought to the doctor who diagnosed him with MSUD. A homozygous recessive individual is affected by MSUD and will have high amio acid blood levels because they lack a functional allele to produce proper proteins.

The patient’s newborn screenings were stuudy, showing elevated BCAAs. This protein complex handles the digestion of amino acids leucine, isoleucine, and valine.

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Time of onset may vary depending on the amount of protein in the feeding regimen.

A case study of maple syrup urine disease, dietary treatment and neuropsychological performance

Open in a separate window. Neuropsychiatry, Neuropsychology and Behavioral NeurologyVol. Data from this investigation support the use of psychological tests to evaluate cognitive and neuropsychological deficits that vary with metabolic changes associated with MSUD.

MsufPaulo Puacand Mauricio Castillo. There had been no problems through pregnancy and birth, but once Matthew was born, he had failed to thrive.

If untreated, various neurological complications including seizures or coma may occur, as BCAAs, especially leucine, are cytotoxic to brain cells, leading to cytotoxic brain edema affecting the myelinated white matter as was seen in the diffusion-weighted imaging DWI of our patient.

Chuang D, Shih V. Despite this diet, he still suffered from chronic and severe metabolic crises. Each of them can be distinguished from the other based on age of onset, severity of clinical symptoms, and response to thiamine.

A case study of maple syrup urine disease, dietary treatment and neuropsychological performance Eugene K.

case study msud

In addition, diffuse white matter abnormalities may be seen on T2-weighted sequences [ Figure 2 ]. Please review our privacy policy. Matthew was placed on a strict low protein diet. He did not have any evidence of overt obtundation or emesis.

Onset sudy clinical symptoms and protein levels in the blood and urine may vary depending on the amount of protein in the feeding regimen. Fingerprint Maple Syrup Urine Disease.

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Maple Syrup Urine Disease Case Study – Philip’s Portfolio

Selected tests of neuropsychological and cognitive functioning, administered before dietary treatment and immediately following metabolic stabilization and at 5-week follow-up, indicated considerable clinical improvement. Link to citation list in Scopus.

Maple syrup urine disease. If untreated, the disease progresses to cause seizures, coma, and eventually, death. It has an annual incidence of 1 inlive births worldwide.

Imaging Findings in Maple Syrup Urine Disease: A Case Report

Branched-chain amino acidsmagnetic resonance imagingmaple syrup urine diseasemyelinated white matterrestricted diffusion.

MRI was obtained and showed restricted diffusion ksud the corticospinal tracts, thalami, globus palladi, midbrain, dorsal brain stem, and cerebellar white matter [ Figure 1 ].

case study msud

Neuropsychiatry, Neuropsychology and Behavioral Neurology5 1 Computed tomography in maple syrup urine disease. The most important diagnostic test for MSUD is the measurement of plasma amino acid concentrations to evaluate elevated levels of BCAAs leucine, isoleucine, and valine and alloisoleucine a metabolite of leucine. Imaging findings are a useful tool for early diagnosis and as a surrogate marker to evaluate for the response to treatment. A review of MSUD literature indicates that infants rarely survive the disorder, and those who do manifest profound neurological abnormality and retardation.

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