Inborn Errors of Metabolism and Conditions on the RUSP
229 stories shared with the coalition.
All stories
Elliott, Age 6Homocystinuria · South Carolina
SamanthaHomocystinuria · Kentucky
Alexander, Age 9 monthsMissouri · Phenylketonuria (PKU)
Ashlynn, Age 5California · Phenylketonuria (PKU)
Brittany
Maine · Phenylketonuria (PKU)
BrookePhenylketonuria (PKU) · Virginia
Callaway, Age 1Methylmalonic acidemia (methylmalonyl-CoA mutase) · Tennessee
Emmalyn, Age 10Glutaric acidemia type · Mississippi
Jacob, Age 6Ornithine transcarbamylasedeficiency · Virginia
JamiesonNew Jersey
Jessica, Kacey, and HaileyNew York · Phenylketonuria (PKU)
JosephNew York · Phenylketonuria (PKU)
Riverlyn, Age 14 monthsArgininosuccinic aciduria · South Carolina
Sadie, Age 12New York · Phenylketonuria (PKU)
Ishaq, Age 5
3-Hydroxy-3-methyglutaric aciduria · Maryland
KrisCalifornia · Phenylketonuria (PKU)
Braxton, Age 1Phenylketonuria (PKU) · Wyoming
Brielle, Age 12Nevada · Phenylketonuria (PKU)
Josephine, Age 6Maryland · Phenylketonuria (PKU)
EmelineMaryland · Phenylketonuria (PKU)
ElizabethPennsylvania · Phenylketonuria (PKU)
Audrey, Age 12Maryland · Tyrosinemia
Eliot, Age 11New Jersey · Phenylketonuria (PKU)
Lily Jo, Age 6Michigan · Tyrosinemia
SarahConnecticut · Phenylketonuria (PKU)
Teresa
North Carolina · Phenylketonuria (PKU)
Kendall
Maryland · Phenylketonuria (PKU)
KurtMaryland · Phenylketonuria (PKU)
Yazmin, Age 2Arizona · Phenylketonuria (PKU)
Camden, Age 10Indiana · Isovaleric acidemia
Grayson, Age 2Colorado · Homocystinuria
Louie, Age 3Methylmalonic acidemia (cobalamin disorders) · New Mexico
Sienna, Age 22Methylmalonic acidemia (cobalamin disorders) · Texas
Zoë and StellaMichigan · Phenylketonuria (PKU)
Raelyn, Age 3Michigan · Phenylketonuria (PKU)
Leah, Age 12Alabama · Homocystinuria
Gannon, 8 monthsMichigan · Phenylketonuria (PKU)
KellyHomocystinuria · Michigan
ElyseColorado · Phenylketonuria (PKU)
HeatherMissouri · Phenylketonuria (PKU)
Leonard, Age 3Pennsylvania · Phenylketonuria (PKU)
Melissa, Age 26Phenylketonuria (PKU) · Texas
MelissaNorth Carolina · Phenylketonuria (PKU)
Annabelle, Age 4
Phenylketonuria (PKU) · South Carolina
Bethany, Age 19Michigan · Phenylketonuria (PKU)
Caroline, RD
Immunoglobulin E & non-Immunoglobulin E-mediated allergies to food proteins · Medical or Surgical Condition of Malabsorption · Minnesota · Provider Stories
Liam, Age 1
Massachusetts · Phenylketonuria (PKU)
KerriNew Jersey · Phenylketonuria (PKU)
Alexander, Age 3Georgia · Phenylketonuria (PKU)
Denver, Age 12Illinois · Phenylketonuria (PKU)
BrianaOklahoma · Phenylketonuria (PKU)
Keira and Victoria, Ages 5 and 7Methylmalonic acidemia (cobalamin disorders)
Libby, Age 5Minnesota · Phenylketonuria (PKU)
Jonathan (4) and Julia (5)Illinois · Phenylketonuria (PKU)
Lena, Age 2Phenylketonuria (PKU) · Utah
Alexander, Age 3Kentucky · Maple syrup urine disease
Evan, Age 8
Florida · Maple syrup urine disease
ChelsiePhenylketonuria (PKU) · Utah
Scarlett, Age 2Phenylketonuria (PKU) · Utah
Jolynn, 3 monthsPhenylketonuria (PKU) · Utah
Aly, Sam, and AnnaPhenylketonuria (PKU) · Utah
Krew, Age 3Phenylketonuria (PKU) · Utah
Ryan, Age 3Phenylketonuria (PKU) · Utah
Clark, Age 3Phenylketonuria (PKU) · Utah
Hannah, age 18Phenylketonuria (PKU) · Utah
Jackson, Sawyer, and HollandPhenylketonuria (PKU) · Utah
Levi, Age 2Phenylketonuria (PKU) · Utah
Tyton, 9 months
Phenylketonuria (PKU) · Utah
Jack, Age 22Kansas · Phenylketonuria (PKU)
KacieNew York · Phenylketonuria (PKU)
Zach, Madie, and Kai (14, 11, and 5)Michigan · Phenylketonuria (PKU)
Hailey, Age 1Iowa · Phenylketonuria (PKU)
LizaOregon · Phenylketonuria (PKU)
Aidan, 9 monthsMassachusetts · Phenylketonuria (PKU)
Alexandria, Age 16Phenylketonuria (PKU) · South Carolina
AmberIndiana · Phenylketonuria (PKU)
Charlotte, Age 13Iowa · Phenylketonuria (PKU)
Clayton, Age 4Ohio · Phenylketonuria (PKU)
Donovan, Age 11 monthsIowa · Phenylketonuria (PKU)
JessicaPhenylketonuria (PKU) · Tennessee
Patti Sue, Age 1Missouri · Phenylketonuria (PKU)
ReaganPhenylketonuria (PKU) · South Carolina
Saif, Age 5Florida · Phenylketonuria (PKU)
Will, Age 14
Phenylketonuria (PKU) · Washington
BrandonPhenylketonuria (PKU) · Virginia
Ellis, Age 12
Phenylketonuria (PKU) · Tennessee
Hattie (20 months) and Maxine (6 months)Pennsylvania · Phenylketonuria (PKU)
SarahPhenylketonuria (PKU) · Tennessee
AllenMichigan · Phenylketonuria (PKU)
NicoleMichigan · Phenylketonuria (PKU)
HudsonPhenylketonuria (PKU) · Texas
Johnny, Age 4Phenylketonuria (PKU) · Washington
Deckard, Age 1California · Phenylketonuria (PKU)
Grace, Age 11New Jersey · Phenylketonuria (PKU)
Pat and IssacOrnithine transcarbamylasedeficiency · Texas
Zoe, Age 4Phenylketonuria (PKU) · Tennessee
KaylaOregon · Phenylketonuria (PKU)
JenniferPhenylketonuria (PKU) · Washington
Sue, Michigan Dietitian
Michigan · Provider Stories
Abbey, Age 8Connecticut · Phenylketonuria (PKU)
Ashley, Utah Metabolic Nurse Practitioner
Provider Stories · Utah
Jennifer, Idaho Dietitian
Idaho · Provider Stories
Sarah, Washington DC Nurse Practitioner
Provider Stories · Washington DC
Stephanie, Florida Dietitian
Florida · Provider Stories
Claire, Age 12Phenylketonuria (PKU) · Utah
Nicholas, Age 3
Michigan · Phenylketonuria (PKU)
Corey, Age 26
New York · Phenylketonuria (PKU)
Sarah
Connecticut · Phenylketonuria (PKU)
Norah, Age 4New York · Phenylketonuria (PKU)
Chris
Connecticut · Phenylketonuria (PKU)
Saylah, Age 2Kansas · Phenylketonuria (PKU)
Mabel, 10 monthsMassachusetts · Phenylketonuria (PKU)
BreannaMassachusetts · Phenylketonuria (PKU)
Declan, Age 11Delaware · Phenylketonuria (PKU)
VenetiaLouisiana · Phenylketonuria (PKU)
JoannaHomocystinuria · Oregon
Samsynn, Age 1North Dakota · Phenylketonuria (PKU)
Maren, Age 6Colorado · Propionic acidemia
KristyNew Jersey · Phenylketonuria (PKU)
Lisa, Age 6Indiana · Phenylketonuria (PKU)
Garrett, Age 9Colorado · Phenylketonuria (PKU)
Lucy and Lucas, Ages 6 and 3Colorado · Phenylketonuria (PKU)
Andrew, Age 18Texas · Tyrosinemia
Tyson, Age 7Louisiana · Phenylketonuria (PKU)
Adysen, Age 11Phenylketonuria (PKU) · Texas
Emily, 11New York · Phenylketonuria (PKU)
JosephHomocystinuria · Illinois
Kelsey, Age 25Phenylketonuria (PKU) · Virginia
Sasha, Age 11Florida · Tyrosinemia
Will, Age 12Phenylketonuria (PKU) · Texas
Elliot, Age 2Illinois · Phenylketonuria (PKU)
Mason, Age 2Iowa · Phenylketonuria (PKU)
Marisa, Age 10Indiana · Phenylketonuria (PKU)
AngelicaKansas · Phenylketonuria (PKU)
Emily, Age 18Ohio · Phenylketonuria (PKU)
Jalen, Age 5Ohio · Phenylketonuria (PKU)
AndreaPhenylketonuria (PKU) · Texas
OwenPhenylketonuria (PKU) · Utah
JoeGeorgia · Phenylketonuria (PKU)
MillieAlabama · Phenylketonuria (PKU)
Harper, 18 monthsMaryland · Phenylketonuria (PKU)
Stephanie, 12Arkansas · Phenylketonuria (PKU)
EmalynnPhenylketonuria (PKU) · Virginia
Terry, 4Florida · Phenylketonuria (PKU)
Asher, 4Illinois · Phenylketonuria (PKU)
ReneeIllinois · Phenylketonuria (PKU)
Maximus, 9Missouri · Phenylketonuria (PKU)
Breeze, 6Colorado · Phenylketonuria (PKU)
DanaeHomocystinuria · Illinois
LisaOhio · Phenylketonuria (PKU)
New York Teen, 17
New York · Phenylketonuria (PKU)
Alice, 1Maryland · Phenylketonuria (PKU)
Anthony, 1Phenylketonuria (PKU) · Texas
Cooper, 10 monthsNew Jersey · Phenylketonuria (PKU)
Draegen, Age 18Phenylketonuria (PKU) · Texas
EllieHomocystinuria · Pennsylvania
Gavin, Age 2.5California · Phenylketonuria (PKU)
HaileyIowa · Phenylketonuria (PKU)
Piper, 2Michigan · Phenylketonuria (PKU)
Robert, Age 11California · Phenylketonuria (PKU)
The SmithsArizona · Phenylketonuria (PKU)
Adler, Age 3Missouri · Phenylketonuria (PKU)
Brayden, 5 monthsNew Jersey · Ornithine transcarbamylasedeficiency
Christiana, Age 11Ohio · Phenylketonuria (PKU)
Denver, Age 10Illinois · Phenylketonuria (PKU)
Drake, Age 3Kansas · Phenylketonuria (PKU)
Emily, Age 6Georgia · Phenylketonuria (PKU)
Emma, Age 10Colorado · Phenylketonuria (PKU)
EthanNew York · Tyrosinemia
Gian, Age 2
North Carolina · Phenylketonuria (PKU)
Isla, Age 5Phenylketonuria (PKU) · Tennessee
Jackson, Age 6Kansas · Phenylketonuria (PKU)
Jessica, Age 36Maryland · Phenylketonuria (PKU)
Jordy, Age 1Phenylketonuria (PKU) · Wisconsin
Kelly
Illinois · Phenylketonuria (PKU)
Kennedy, Age 9 monthsPennsylvania · Phenylketonuria (PKU)
Lelia, Age 2Idaho · Phenylketonuria (PKU)
Linkyn, 18 monthsCalifornia · Phenylketonuria (PKU)
Luke, Age 4California · Phenylketonuria (PKU)
Maeve, Age 8Phenylketonuria (PKU) · Texas
Michelle
Phenylketonuria (PKU) · Washington
Nico, 15 monthsCalifornia · Phenylketonuria (PKU)
Oliver, 10 monthsNorth Carolina · Phenylketonuria (PKU)
OwenArizona · Phenylketonuria (PKU)
Rebecca and StephenDelaware · Phenylketonuria (PKU)
Silas, Age 4 and Elijah, Age 7Kansas · Phenylketonuria (PKU)
Zoey, 15 months
New York · Tyrosinemia
Canaan, Age 2Georgia · Very long-chain acyl-CoA dehydrogenase deficiency
Christopher, Age 9Georgia · Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency
Claire, Age 8Louisiana · Tyrosinemia
Ellie and ZayIowa · Phenylketonuria (PKU)
Sarah, Age 50
Phenylketonuria (PKU) · Washington
TylerMassachusetts · Phenylketonuria (PKU)
Zoey, Age 1Ohio · Phenylketonuria (PKU)
Hailey, Age 17Georgia · Maple syrup urine disease
Isabelle, Age 2.5California · Phenylketonuria (PKU)
Jeff
Maple syrup urine disease · Pennsylvania
Nia, Age 3Maple syrup urine disease · Ohio
HannahMaple syrup urine disease · New York
Carter, Age 5California · Maple syrup urine disease
Indigo, Age 5Maple syrup urine disease · Washington
Laryssa
New York · Phenylketonuria (PKU)
Aiden and Aaron, Ages 5 and 3Phenylketonuria (PKU) · Washington
Jennifer
Maryland · Phenylketonuria (PKU)
Ian, Age 12
3-Hydroxy-3-methyglutaric aciduria · Arizona
Joey
Massachusetts · Phenylketonuria (PKU)
Kathy, Age 55
Florida · Phenylketonuria (PKU)
Elliott, 1 month
Michigan · Phenylketonuria (PKU)
Laila, Age 12Oregon · Phenylketonuria (PKU)
WalkerGeorgia · Phenylketonuria (PKU)
Addison, Age 4Arizona · Phenylketonuria (PKU)
Sabastian
Maple syrup urine disease · Nevada
Jessica
Indiana · Phenylketonuria (PKU)
John
Phenylketonuria (PKU) · Texas
LesPhenylketonuria (PKU) · Texas
AnnabellePhenylketonuria (PKU) · South Carolina
Juliana
New York · Phenylketonuria (PKU)
AshlynnCalifornia · Phenylketonuria (PKU)
Evan, Age 13
New Jersey · Phenylketonuria (PKU)
PamelaHomocystinuria · Nevada
RileyIllinois · Phenylketonuria (PKU)
VincentFlorida · Tyrosinemia
ZoeyArgininosuccinic aciduria · Texas
Audrina, Age 8
North Carolina · Phenylketonuria (PKU)
ChristopherPhenylketonuria (PKU) · Washington
Brynnslee and BrekelleNebraska · Phenylketonuria (PKU)
DeclanDelaware · Phenylketonuria (PKU)
JordanPhenylketonuria (PKU) · Washington
IsabelNew Jersey · Phenylketonuria (PKU)