Intellectual outcome in children with maple syrup urine disease. It has an annual incidence of 1 in , live births,[ 1 ] with a higher prevalence in Amish, Mennonite, and Jewish children. Diet is, in most cases, sufficient to control clinical sequelae of MSUD. It is characterized by an enzymatic deficiency of branched-chain alpha-ketoacid dehydrogenase complex leading to accumulation of BCAAs leucine, isoleucine, and valine , and their toxic by-products keto acids in blood and urine. The patient presented with slight irritability and poor feeding in the second week of life. Support Center Support Center. Abnormal accumulation of these amino acids results in a variety of symptoms including lethargy, irritability, feeding problems, vomiting, and the characteristic maple-syrup odor of urine.
Branched-chain amino acids , magnetic resonance imaging , maple syrup urine disease , myelinated white matter , restricted diffusion. Outcome of maple syrup urine disease. National Center for Biotechnology Information , U. Each of them can be distinguished from the other based on age of onset, severity of clinical symptoms, and response to thiamine. This protein complex handles the digestion of amino acids leucine, isoleucine, and valine. Imaging features are useful for early diagnosis.
DWI top row and corresponding apparent diffusion coefficient bottom row demonstrate marked restricted diffusion because of cytotoxic edema involving the cerebellar white matter, dorsal brain stem, thalami, globus palladi, and internal capsules.
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. If untreated, the disease progresses to cause seizures, coma, and eventually, death. There must be ways to screen for this disease as well. Diagnosis and treatment of maple syrup disease: Most patients treated within a few days from the onset of symptoms survive and may not develop any residual neurological deficits.
We present a neonate with the classic subtype of MSUD and its imaging features on magnetic resonance imaging. Neuropsychiatry, Neuropsychology and Behavioral NeurologyVol. Leucine is toxic to brain cells, leading to cytotoxic edema affecting the myelinated white matter, and involving the corticospinal tracts, thalami, globus palladi, midbrain, dorsal brain stem, and cerebellum.
MRI shows marked restricted diffusion, reflecting intracellular edema cytotoxic edemainvolving the corticospinal tracts posterior limbs of the internal capsulethalami, globus palladi, midbrain, dorsal brain stem, and cerebellar white matter [ Figure 1 ].
Management of MSUD involves two aspects: He did not have any evidence of overt obtundation or emesis. This case study describes the developmental history and behavioral and neuropsychological sequelae of maple syrup urine disease MSUD in an year-old male.
Since they only have one functional allele, their amino acid blood levels should be tsudy than homozygous dominant individuals. N2 – This case study describes the developmental history and behavioral and neuropsychological sequelae of maple syrup urine disease MSUD in an year-old male. Leave a Reply Cancel reply Your email address will not be published. Outcome of maple syrup urine disease. Disorders of branched-chain amino acid and keto acid metabolism.
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Since they cannot be digested, they build up in the body causing brain swelling and other syptoms. Leave this field empty. Matthew was placed on a strict low protein diet.
Support Center Support Center. I feel that the option of BCKD supplementation msid conjunction with dietary regulation should be considered over a liver transplant.
Abnormal accumulation of these amino acids results in a variety of symptoms including lethargy, irritability, feeding problems, vomiting, and the characteristic maple-syrup odor of urine.
Maple syrup urine disease: report of two cases.
Author information Copyright and License information Disclaimer. T1 – A case study of maple syrup urine disease, dietary treatment and neuropsychological performance. Jsud case study of maple syrup urine disease, dietary treatment and neuropsychological performance Eugene K.
It has an annual incidence of 1 inlive births worldwide. I understand that a liver transplant could be more effective because then the body is able to synthesize its own enzyme rather than the patient relying on getting regular supplements. Link to citation list in Scopus. What about supplementation of the BCKD protein complex to allow the body to digest the built up amino acids?
AB – This case study describes the developmental history and behavioral and neuropsychological sequelae of maple syrup urine disease MSUD in an year-old male. stkdy
Maple syrup urine disease: report of two cases.
Mdud 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. In addition, diffuse white matter abnormalities may be seen on T2-weighted sequences [ Figure 2 ].
A homozygous recessive individual is affected by MSUD and will have high amio sudy blood levels because they lack a functional allele to produce proper proteins.