A Patient with MSUD: Acute Management with Sodium Phenylacetate/Sodium Benzoate and Sodium Phenylbutyrate
Köse, Melis, et al Case reports in pediatrics 2017 (2017).

This paper documents the experiences of doctors in Turkey treating a 19 month old boy with classic MSUD in a metabolic crisis. The boy was initially treated with formula through naso-gastric (NG) tube feeds. His level of consciousness decreased and he was placed on hemodialysis. While his leucine level decreased significantly with this treatment, he developed a fever and his levels rose again. The hemodialysis was discontinued due to a likely infection and a clogged catheter, and he was given sodium phenylbutyrate intraveneously. After 24 hours of treatment with sodium phenylbutyrate, he developed full consciousness. Treatment continued via NG tube and blood leucine levels normalized. He continued to do well at follow up 1 year later.

Twenty novel mutations in BCKDHA, BCKDHB and DBT genes in a cohort of 52 Saudi Arabian patients with maple syrup urine disease
Imtiaz, Faiqa, et al. Molecular Genetics and Metabolism Reports 11 (2017): 17-23.

MSUD affects all ethnic groups with an estimated frequency of 1/185,000. The incidence in the Mennonite population is much higher (approximately 1/180). A higher than typical incidence is also reported in Ashkenazi Jews and in Portuguese gypsies. According to the authors, the estimated incidence of MSUD in Saudi Arabia based on newborn screening results is approximately 1/21,490 live births. This study reports on genetic testing done on 52 individuals with MSUD born to consanguineous parents (closely related). A total of 25 different mutations were observed in 3 genes coding for the enzyme complex involved in MSUD, only 5 of which had been previously identified.

Letter to the Editor: First Domino Liver Transplant in Saudi Arabia.
Mohammed Saad Al Qahtani et al Experimental and Clinical Transplantation (2016) 6: 691-692

This letter describes a domino transplant in which a 13 year old boy with MSUD received a liver from a boy who died of a head injury. His liver was then donated to a 55 year old woman with cirrhosis. Branched-chain amino acid levels were normal by 20 days. The boy did experience some post-operative complications which were resolved. Long term follow up was not described.


As our legislators headed home for their August break, Rare Disease Legislative Advocates got busy.

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MSUD Awareness Day

Now more than ever before we are hearing about National Awareness Days which are set by organizations or the government to bring attention to issues of importance.

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NBS-MSUD Connect: Advancing MSUD Research And More


Rare disease registries have received attention in recent years because of the many ways in which they can benefit the rare disease community.

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Sweet Odyssey

Artur Santos was born on January 18, 2002, the second son of Soraya and Idario Santos. They never imagined how their lives were about change as the second baby arrived.

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Updates To Nutrition Management Guidelines

The Nutrition Management Guideline for MSUD was first published in 2014. Since that time, there have been reports of new research and experiences that have prompted updates of the guideline.

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In The Professional Journals

A Patient with MSUD: Acute Management with Sodium Phenylacetate/Sodium Benzoate and Sodium Phenylbutyrate

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A Child's Life

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