Search

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.

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.

Read More

Adjusting Protein In An Adult With MSUD

A little over a year ago, in January, Jeff was just not himself. He had limited energy, was not eating well, and often appeared slightly agitated.

Read More

Indigo Charlie Mays - Variant MSUD Age 4

Meet our girl Indigo Charlie Mays. After a smooth pregnancy and delivery, she was born on July 21st, 2013 in Seattle, WA.

Read More

Cambrooke Foods Hosts Local Event

Cambrooke has been doing cooking demonstrations, social meet ups and educational events for patients, their families and the clinician’s that support them for many years.

Read More

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.

Read More

Fundraising

In the 2016 survey of the membership of the MSUD Family Support Group, research for improved treatments and potential cure was rated “most important” by 90% of the responding members.

Read More

Transform

A Child's Life

Subscribe to our mailing list

Signup To Our Newsletter Signup with your email address to receive news and updates