National Urea Cycle Disorders Foundation

Patients hospitalized with high ammonia levels (hyperammonemia) are at high risk of acute seizures. An analysis of the experiences of 40 patients with inborn errors of metabolism conducted by a team led by Andrea Gropman, formerly of Children's National Hospital Foundation but now at St. Jude Children's Research Hospital, found: ? Early consultation with a pediatric neurology team and neuromonitoring in hyperammonemia cases can improve outcomes. ? EEG is a useful tool for management of acute hyperammonemia crises even in patients not experiencing clinical seizures. ? Patients may need anti-seizure medication in the short term. ? Older patients may be more likely to require ongoing seizure medication. ? Identifying subclinical seizures (those without noticeable symptoms) and background EEG abnormalities can lead to changes in care. ? Asymmetry and focal slowing findings on EEG may help identify patients at risk of seizures. Neuroimaging should be considered when those characteristics are present. ? EEG can be useful in monitoring for increased cranial pressure when more invasive modalities are not an option. Read more here: https://lnkd.in/gQevBhZD #UreaCycleDisorders #UCDs #MapleSyrupUrineDisease #MSUD #ProprionicAcidemia #PA #MitochondrialDisease

We deeply appreciate our donors and supporters. Your unwavering commitment to our community and mission makes a significant difference. Together, your support changes lives for the better. #donors #thankyou #grateful #nucdf

The holidays are often a time of family gatherings, which can and should be joyous celebrations. It does, however, highlight the different eating habits of those with UCDs. How do you handle large family dinners/gatherings during the holidays? What are some of your favorite low-protein recipes? #lowprotein #recipes #ureacycledisorders #raredisease #metabolicconditions

We truly appreciate our medical advisory board, whose expertise is invaluable to our efforts. Their guidance on projects of all sizes enhances our work. They readily address inquiries, offer crucial insights, and play a key role in propelling our mission forward. #thankyou #grateful #nucdf #ureacycle #ureacycledisorders #metabolicdisorders #geneticdisorders #raredisease

We truly appreciate our medical advisory board, whose expertise is invaluable to our efforts. Their guidance on projects of all sizes enhances our work. They readily address inquiries, offer crucial insights, and play a key role in propelling our mission forward. #thankyou #grateful #nucdf #ureacycle #ureacycledisorders #metabolicdisorders #geneticdisorders #raredisease

Mitchell Magyar was born with argininosuccinic aciduria (ASA) and diagnosed by newborn screening at 7 days old. Thanks to that test, his life was saved. His most prominent UCD symptom was that he didn’t eat by mouth. He had a G-tube starting at 3 months old, and to this day still eats that way. Because of that G-tube, he remained fairly metabolically stable throughout his childhood. He began to have issues when he hit early puberty. Then, there was no rhyme or reason for his high ammonia episodes. His mother Amy began researching liver transplants, and Mitchell received a new liver when he was 13. He is now 16. Amy has remained a steadfast supporter of the NUCDF and continues to help newly diagnosed families on this journey. Watch her story at https://lnkd.in/eneaWWZS. #ureacycledisorders #asa #ureacycle #metagolicdisorders #geneticdisorders #raredisease #rarediseases #familystory

Mitchell Magyar was born with argininosuccinic aciduria (ASA) and diagnosed by newborn screening at 7 days old. Thanks to that test, his life was saved. His most prominent UCD symptom was that he didn’t eat by mouth. He had a G-tube starting at 3 months old, and to this day still eats that way. Because of that G-tube, he remained fairly metabolically stable throughout his childhood. He began to have issues when he hit early puberty. Then, there was no rhyme or reason for his high ammonia episodes. His mother Amy began researching liver transplants, and Mitchell received a new liver when he was 13. He is now 16. Amy has remained a steadfast supporter of the NUCDF and continues to help newly diagnosed families on this journey. Watch her story at https://lnkd.in/eneaWWZS. #ureacycledisorders #asa #ureacycle #metagolicdisorders #geneticdisorders #raredisease #rarediseases #familystory

We are grateful to the researchers who have devoted their careers to discovering breakthroughs that support our mission. Their scientific advancements significantly impact our organization and the families we serve, and we truly appreciate their ongoing commitment to UCDs. #research #ucdresearch #ureacycle #ureacycledisorder #ureacycledisorders #metabolicdisorders #geneticdisorders #thankful #thankyou

Have you joined our new urea cycle disorder Facebook support group yet? Join here: https://lnkd.in/eBdhAr3C #ureacycle #ureacycledisorder #ureacycledisorders #supportgroup #nucdf #community #raredisease #rarediseases #metabolicdisorders #highammonia #bloodammonia

We are thankful for our families. We will support our families just as they continue to support us and each other. #ucd #ureacycledisorder #ureacycledisorders #ureacycle #metabolicdisorders #geneticdisorders #november #thankful