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Maple syrup urine disease

Smith ABS - MedPix (2007)

View Article: MedPix Image - MedPix Case

Affiliation: Uniformed Services University

ABSTRACT

Diagnosis: Maple syrup urine disease

History: 1 week old baby boy with poor feeding, now developing increasing vomiting. His mother reports a strange odor to his urine.

Findings: •Axial T2 weighted images reveal T2 prolongation, consistent with edema, in the deep cerebellar white matter, dorsal brainstem, cerebral peduncles, and posterior limb of the internal capsule. •MR spectroscopy reveals a broad peak at 0.9 ppm representing branched chain amino acids and branched chain alpha ketoacids. An abnormal peak is also present at 1.33 ppm consistent with lactate.

Ddx: • Maple syrup urine disease • Other aminoacidopathies presenting in the first week of life

Dxhow: Laboratory values revealing elevation of branched-chain amino acids.

Exam: Evaluation of plasma amino acids revealed elevation of branched chain amino acids, including alloisoleucine.

No MeSH data available.


MR spectroscopy demonstrates a peak at 0.9 ppm representing branched chain amino acids.  A peak is present at 1.33 ppm consistent with lactate.  This is consistent with an aminoacidopathy/aminoaciduria disorder.
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MPX1529_synpic39421: MR spectroscopy demonstrates a peak at 0.9 ppm representing branched chain amino acids. A peak is present at 1.33 ppm consistent with lactate. This is consistent with an aminoacidopathy/aminoaciduria disorder.


Maple syrup urine disease

Smith ABS - MedPix (2007)

MR spectroscopy demonstrates a peak at 0.9 ppm representing branched chain amino acids.  A peak is present at 1.33 ppm consistent with lactate.  This is consistent with an aminoacidopathy/aminoaciduria disorder.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=MPX1529&req=5

MPX1529_synpic39421: MR spectroscopy demonstrates a peak at 0.9 ppm representing branched chain amino acids. A peak is present at 1.33 ppm consistent with lactate. This is consistent with an aminoacidopathy/aminoaciduria disorder.

View Article: MedPix Image - MedPix Case

Affiliation: Uniformed Services University

ABSTRACT

Diagnosis: Maple syrup urine disease

History: 1 week old baby boy with poor feeding, now developing increasing vomiting. His mother reports a strange odor to his urine.

Findings: •Axial T2 weighted images reveal T2 prolongation, consistent with edema, in the deep cerebellar white matter, dorsal brainstem, cerebral peduncles, and posterior limb of the internal capsule. •MR spectroscopy reveals a broad peak at 0.9 ppm representing branched chain amino acids and branched chain alpha ketoacids. An abnormal peak is also present at 1.33 ppm consistent with lactate.

Ddx: • Maple syrup urine disease • Other aminoacidopathies presenting in the first week of life

Dxhow: Laboratory values revealing elevation of branched-chain amino acids.

Exam: Evaluation of plasma amino acids revealed elevation of branched chain amino acids, including alloisoleucine.

No MeSH data available.