GRACILE syndrome
Última actualización 3 Apr 2025
Cumple con las directrices editoriales
- DescargarDescargar
- Compartir
- Language
- Discusión
- Versión en audio
- Agregar a fuentes preferidas en Google
GRACILE syndrome is a severe disorder that begins before birth. GRACILE stands for the condition's characteristic features: growth retardation, aminoaciduria, cholestasis, iron overload, lactic acidosis, and early death.
Descripción
GRACILE syndrome is a severe disorder that begins before birth. GRACILE stands for the condition's characteristic features: growth retardation, aminoaciduria, cholestasis, iron overload, lactic acidosis, and early death.
In GRACILE syndrome, growth before birth is slow (intrauterine growth retardation). Affected newborns are smaller than average and have an inability to grow and gain weight at the expected rate (failure to thrive). A characteristic of GRACILE syndrome is excess iron in the liver, which likely begins before birth. Iron levels may begin to improve after birth, although they typically remain elevated. Within the first day of life, infants with GRACILE syndrome have a buildup of a chemical called lactic acid in the body (lactic acidosis). They also have kidney problems that lead to an excess of molecules called amino acids in the urine (aminoaciduria). Babies with GRACILE syndrome have cholestasis, which is a reduced ability to produce and release a digestive fluid called bile. Cholestasis leads to irreversible liver disease (cirrhosis) in the first few months of life.
Because of the severe health problems caused by GRACILE syndrome, infants with this condition do not survive for more than a few months, and about half die within a few days of birth.
Patrones de herencia
The source lists the following possible inheritance patterns: Autosomal recessive. More than one pattern can apply in different cases.
Related genes
Otros nombres
Fellman syndrome
Finnish lactic acidosis with hepatic hemosiderosis
Finnish lethal neonatal metabolic syndrome
Growth retardation, amino aciduria, cholestasis, iron overload, lactic acidosis, and early death
Related patient information and medicines
Patient information leaflet
Síndrome de vómito cíclico
Cyclical vomiting syndrome is a condition cuál occurs mainly in children but can also affect adults. It is more common in people who have migraines. Children have severe episodes of feeling sick (nausea) and being sick (vomiting), sometimes with other symptoms. What is cyclical vomiting syndrome. Vómitos cíclicos syndrome is a condition in which.
Patient information leaflet
Síndrome de alergia oral
Oral allergy syndrome causes symptoms around the mouth that are triggered by certain foods. It is associated with other conditions caused by plant allergies, such as hay fever and allergy to birch pollen. It's also called pollen-food syndrom... What is oral allergy syndrome. Oral allergy syndrome (OAS) es un allergic condition which causes itching.
Patient information leaflet
Síndrome de Cri du Chat
Cri du chat syndrome is a chromosome problem caused by a missing piece of chromosome 5. The syndrome is called cri du chat (French for llorar of the cat) because affected babies often have a high-pitched cry. Not all babies with the missing piece of chromosome 5 will develop cri du chat syndrome. Cri du chat syndrome may cause a variety of abnorma....
Patient information leaflet
Síndrome de dolor trocantérico mayor
Síndrome de dolor trocantérico mayor es un condition that causes pain over the outside of the upper thigh (or both thighs) and hip. The cause is usually due to inflammation or injury to some of the tissues that lie over the bony prominence (the greater trochanter) at the top of the thigh bone... Greater trochanteric pain syndrome (GTPS), also known.
Patient information leaflet
Dolor de rodilla y rótula
Most knee conditions cause pain in the front (anterior) of the knee. Patellofemoral... Pain at the back of the knee is usually caused by a Baker's cyst (also known as a popliteal cyst). The rest of this leaflet deals with patellofemoral pain syndrome, which is much more common. What is patellofemoral pain syndrome. Síndrome de dolor patelofemoral is.
Patient information leaflet
Síndrome de Gilbert
Gilbert's syndrome is due to an inherited defect en processing bilirubin en the liver. Bilirubin is produced from the breakdown of red blood cells. When it cannot be cleared properly in the liver, its levels build up in the blood. What is Gilbert's syndrome. Gilbert's syndrome - also known as constitutional hepatic dysfunction - is a condition.
Lecturas adicionales y referencias
- GRACILE syndrome; MedlinePlus, National Library of Medicine.
- Fellman V. The GRACILE syndrome, a neonatal lethal metabolic disorder with iron overload. Blood Cells Mol Dis. 2002 Nov-Dec;29(3):444-50. doi: 10.1006/bcmd.2002.0582.
- Kotarsky H, Karikoski R, Morgelin M, Marjavaara S, Bergman P, Zhang DL, Smet J, van Coster R, Fellman V. Characterization of complex III deficiency and liver dysfunction in GRACILE syndrome caused by a BCS1L mutation. Mitochondrion. 2010 Aug;10(5):497-509. doi: 10.1016/j.mito.2010.05.009. Epub 2010 May 23.
- Visapaa I, Fellman V, Vesa J, Dasvarma A, Hutton JL, Kumar V, Payne GS, Makarow M, Van Coster R, Taylor RW, Turnbull DM, Suomalainen A, Peltonen L. GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L. Am J Hum Genet. 2002 Oct;71(4):863-76. doi: 10.1086/342773. Epub 2002 Sep 5.
Únete a la conversación
Comparte tus pensamientos o experiencias con otros en nuestro comunidades de pacientes.
Pregunta, comparte, conecta.
Navega por discusiones, haz preguntas y comparte experiencias en cientos de temas de salud.
Suscríbete al boletín de Patient
Tu dosis semanal de consejos de salud claros y confiables, escritos para ayudarte a sentirte informado, seguro y en control.
Al suscribirte aceptas nuestros Política de Privacidad. Puedes darte de baja en cualquier momento. Nunca vendemos tus datos.