Transcript of Seminario 3a: Aciduria Arginosuccinica. Autores del artículo: “A mouse model of argininosuccinic aciduria: biochemical. sangre seca en papel de filtro Argininemia — Arginina Citrulinemia Citrulina Aciduria Arginosuccinica Citrulina Homocistinuria — Metionina Hipermetioninemia. Aciduria argininosuccínica Deficiencia de argininosuccinato liasa Deficiencia de ASL (por sus siglas en inglés) ASA Deficiencia de succinato arginino.
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Diagnostic methods Diagnosis is based mainly on clinical findings and laboratory test results. Knowing the presence of this mutation is a valuable asset because with the proper arginosuccunica counseling is possible to prevent occurrence of these diseases in the future new members of the family.
Summary and related texts.
This information only has an educational aciduriaa. Also they require a confirmatory test. No dude en ponerse en contacto. In addition, this analysis identifies whether the child and potentially your family are healthy carriers of any of these mutations. If untreated, worsening lethargy, seizures, coma and death may occur.
El tamizaje metabolico en el diagnostico de los errores innatos del metabolismo.
This enzyme catalyzes the conversion of argininosuccinic acid into arginine and fumarate during the fourth step of the urea cycle. Long-term complications associated with both forms of ASA include chronic hepatomegaly, liver dysfunction fibrosis or cirrhosisneurocognitive deficits i.
Only comments written in English can be processed. SouthGenetics – Todos los Derechos Reservados. Management and treatment During an acute hyperammonemic episode, oral proteins must be avoided and intravenous I.
The documents contained in this web site are presented for information purposes only. Neonates with severe neonatal-onset ASA usually appear normal during the first hours after birth but within a few days present with severe hyperammonemia manifesting with lethargy, somnolence, refusal to feed, vomiting, tachypnea and respiratory alkalosis.
ASA can have a variable clinical picture with either a neonatal-onset or a late-onset at any age outside the newborn period. Such as cystic fibrosis or congenital Deafness.
During an acute hyperammonemic episode, oral proteins must be avoided and intravenous I. These disorders if are identified and treated early, allow the healthy development of your baby or a better quality of life. Genetic counseling ASA is inherited in an autosomal recessive manner and genetic counseling is advisable. In those with frequent episodes of metabolic decompensation or with hyperammonemia even when following a protein-restricted diet, daily oral nitrogen scavenging therapy may be successful.
The analysis is done from a few drops of blood taken from the umbilical cord at birth or later through a heelstick. Other search option s Alphabetical list. A healthy carrier is a person who has one mutated gene while the other gene is not affected, so it does not manifest the disease.
Orphanet: Argininosuccinic aciduria
Prenatal diagnosis is raginosuccinica in families with a known disease causing mutation on both alleles. Javier Calvelo adhoc Foto… https: The diseases included in this analysis can be classified into the following groups:. Early medical treatment can allow your child to have a normal life, or minimize the consequences of the disease.
What diseases does this analysis? Clinical description ASA can have a variable clinical picture with either a neonatal-onset or a late-onset arginosucccinica any age outside the newborn period. The test is safe and presents no risk to your baby. Late-onset ASA is usually triggered by an acute infection, stress or after high protein intake. NeonatalAll ages ICD This study is complementary to screening methods based on metabolites that are made under the National Research Program Newborn.
Orthotopic liver transplantation offers long-term relief of hyperammonemia but does not seem to sufficiently correct neurological complications.
Only comments seeking to improve arfinosuccinica quality and accuracy of information on the Orphanet website are accepted. Prognosis With early diagnosis and treatment, hyperammonemic episodes can be avoided but long-term complications neurocognitive impairment, hepatic disease and arterial hypertension are frequent and have a negative effect on life-expectancy and quality of life.
Specialised Social Services Eurordis directory. Antenatal diagnosis Prenatal diagnosis is possible in families with a known disease causing mutation on both alleles.
Linked to chemical reactions in the body to create energy and build tissue. Long-term management involves dietary protein restriction as well as arginine supplementation.