scholarly journals Cerebral Edema in Maple Syrup Urine Disease Despite Newborn Screening Diagnosis and Early Initiation of Treatment

2011 ◽  
pp. 103-106 ◽  
Author(s):  
Kenneth A. Myers ◽  
Melanie Reeves ◽  
Xing-Chang Wei ◽  
Aneal Khan
Keyword(s):  
Newborn Screening ◽  
Maple Syrup Urine Disease ◽  
Cerebral Edema ◽  
Early Initiation ◽  
Maple Syrup ◽  
Urine Disease

scholarly journals Challenges in Diagnosing Intermediate Maple Syrup Urine Disease by Newborn Screening and Functional Validation of Genomic Results Imperative for Reproductive Family Planning

2021 ◽  
Vol 7 (2) ◽  
pp. 25
Author(s):  
Mona Sajeev ◽  
Sharon Chin ◽  
Gladys Ho ◽  
Bruce Bennetts ◽  
Bindu Parayil Sankaran ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Maple Syrup Urine Disease ◽  
Dietary Intervention ◽  
Brain Mri ◽  
Prenatal Testing ◽  
Intermediate Form ◽  
Motor Delay ◽  
Maple Syrup ◽  
Hyperintense Signal ◽  
Urine Disease

Maple syrup urine disease is caused by a deficiency of branched-chain alpha-ketoacid dehydrogenase, responsible for degradation of leucine, isoleucine, and valine. Biallelic pathogenic variants in BCKDHA, BCKDHB, or DBT genes result in enzyme deficiency. We report the case of a female infant who presented with mild gross motor delay at 4 months, and seizures with hypoglycaemia at 5 months. Newborn screening returned total leucine/isoleucine at the 99.5th centile of the population; however, as second-tier testing reported minimal alloisoleucine, the results were considered inconsistent with MSUD. Plasma amino acid and urine organic acid analyses at 5 months were, however, consistent with a diagnosis of MSUD. A brain MRI showed bilateral symmetrical T2 hyperintense signal abnormalities involving white matter, globus pallidus, thalamus, brainstem, and dentate nuclei with restricted diffusion. A repeat MRI 10 months post-dietary-intervention showed the resolution of these changes and progression in myelination. Her clinical phenotype, including protein tolerance, correlated with intermediate MSUD. Molecular analysis of all three genes identified two variants of uncertain significance, c.434-15_434-4del and c.365A>G (p. Tyr122Cys) in the DBT gene. The rate of leucine decarboxylation in fibroblasts was reduced, but not to the extent observed in classical MSUD patients, supporting an intermediate form of MSUD. Previously reported mRNA splicing studies supported a deleterious effect of the c.434-15_434-4del variant. This functional evidence and confirmation that the variants were in trans, permitted their reclassification as pathogenic and likely pathogenic, respectively, facilitating subsequent prenatal testing. This report highlights the challenges in identifying intermediate MSUD by newborn screening, reinforcing the importance of functional studies to confirm variant pathogenicity in this era of molecular diagnostics.

Microassay system for newborn screening for phenylketonuria, maple syrup urine disease, homocystinuria, histidinemia and galactosemia with use of a fluorometric microplate reader

Screening ◽  
1992 ◽  
Vol 1 (1) ◽  
pp. 49-62 ◽  
Author(s):  
Akihiro Yamaguchi ◽  
Yoshikiyo Mizushima ◽  
Masaru Fukushi ◽  
Yoshio Shimizu ◽  
Yuko Kikuchi ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Maple Syrup Urine Disease ◽  
Maple Syrup ◽  
Urine Disease ◽  
Microplate Reader

Maple syrup urine disease: Further evidence that newborn screening may fail to identify variant forms

2010 ◽  
Vol 100 (2) ◽  
pp. 136-142 ◽  
Author(s):  
R.L. Puckett ◽  
F. Lorey ◽  
P. Rinaldo ◽  
M.H. Lipson ◽  
D. Matern ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Maple Syrup Urine Disease ◽  
Maple Syrup ◽  
Urine Disease

scholarly journals Challenges in the management of patients with maple syrup urine disease diagnosed by newborn screening in a developing country

2016 ◽  
Vol 8 (1) ◽  
pp. 9-15 ◽  
Author(s):  
Leniza G. De Castro-Hamoy ◽  
Mary Anne D. Chiong ◽  
Sylvia C. Estrada ◽  
Cynthia P. Cordero
Keyword(s):  
Newborn Screening ◽  
Developing Country ◽  
Maple Syrup Urine Disease ◽  
Maple Syrup ◽  
Urine Disease

Rapid second-tier testing for newborn screening and therapeutic monitoring of maple syrup urine disease

2014 ◽  
Vol 47 (15) ◽  
pp. 149-150
Author(s):  
Graham Sinclair ◽  
Clara van Karnebeek ◽  
Ramona Salvarinova ◽  
Gloria Ho ◽  
Keiko Ueda ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Maple Syrup Urine Disease ◽  
Therapeutic Monitoring ◽  
Maple Syrup ◽  
Urine Disease ◽  
Second Tier

Cerebral edema causing death in children with maple syrup urine disease

1991 ◽  
Vol 119 (1) ◽  
pp. 42-45 ◽  
Author(s):  
James J. Riviello ◽  
Iraj Rezvani ◽  
Angelo M. DiGeorge ◽  
Catherine M. Foley
Keyword(s):  
Maple Syrup Urine Disease ◽  
Cerebral Edema ◽  
Maple Syrup ◽  
Urine Disease

Newborn screening may fail to identify intermediate forms of maple syrup urine disease

2006 ◽  
Vol 29 (4) ◽  
pp. 586-586 ◽  
Author(s):  
K. Bhattacharya ◽  
V. Khalili ◽  
V. Wiley ◽  
K. Carpenter ◽  
B. Wilcken
Keyword(s):  
Newborn Screening ◽  
Maple Syrup Urine Disease ◽  
Maple Syrup ◽  
Urine Disease

scholarly journals Maple Syrup Urine Disease: Newborn Screening Fails to Discriminate between Classic and Variant Forms

2008 ◽  
Vol 54 (10) ◽  
pp. 1739-1741 ◽  
Author(s):  
Ralph Fingerhut ◽  
Eva Simon ◽  
Esther M Maier ◽  
Julia B Hennermann ◽  
Udo Wendel
Keyword(s):  
Newborn Screening ◽  
Maple Syrup Urine Disease ◽  
Maple Syrup ◽  
Urine Disease
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