ACIDURIA ARGINOSUCCINICA PDF

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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Clinical description ASA can have a variable clinical picture with either a neonatal-onset or a late-onset at any age outside the newborn period. Neonates with severe neonatal-onset ASA usually appear normal during adiduria 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.

Diagnostic methods Diagnosis is based mainly on clinical findings and laboratory test results. Prenatal diagnosis is possible in families with a arinosuccinica disease causing mutation on both alleles. Also they require a confirmatory test. Summary and related texts. Some patients can be asymptomatic. The test is safe and presents no risk to your baby.

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.

Check this box if you wish to receive a copy of your message. Early medical treatment can allow your child to have a normal life, or minimize the consequences of the disease. Differential diagnoses include other urea cycle disorders such as carbamoyl-phosphate synthetase 1 deficiency, ornithine transcarbamylase deficiency, citrullinemia type I and arginase deficiency see these terms.

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This analysis includes all diseases currently carried in the newborns in the United States and Europe. Late-onset ASA is usually triggered by an acute infection, stress or after high protein intake. A presentation of late-onset cognitive impairment or learning disabilities in the absence of hyperammonemic episodes has also been reported. Long-term complications associated with both forms of ASA include chronic hepatomegaly, liver dysfunction fibrosis or cirrhosisneurocognitive deficits i.

ACIDURIA ARGINOSUCCINICA by Fernanda Ramírez on Prezi

The diseases included in this analysis can be classified into the following groups:. Antenatal diagnosis Prenatal diagnosis is possible in families with a known disease causing mutation on both alleles.

Only comments written in English can be processed. ASA can have a variable clinical picture with either a neonatal-onset or a late-onset at any age outside the newborn period.

Seminario 3a: Aciduria Arginosuccinica by Lucia Rebollo on Prezi

The acidurix included in this analysis can be classified into the following groups: Newborn screening for ASA is available in the U. Javier Calvelo adhoc Foto… https: The analysis is done from a few drops of blood taken from the umbilical cord at birth or later through a heelstick.

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. Long-term management involves dietary protein restriction as well as arginine supplementation.

NeonatalAll ages ICD Differential diagnosis Differential diagnoses include other urea cycle disorders such as carbamoyl-phosphate synthetase 1 deficiency, ornithine transcarbamylase deficiency, citrullinemia type I and arginase deficiency see arginosucinica terms.

The results are reported within 10 working days after sampling. Management and treatment During an acute hyperammonemic episode, oral proteins must be avoided and intravenous I.

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Molecular genetic testing confirms diagnosis. SouthGenetics – Todos los Derechos Reservados. Genetic counseling ASA is inherited in an autosomal recessive manner and genetic counseling is advisable. 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.

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. The sample can even take up the first year of life. Preventing conditions that can cause serious illness, intellectual disability and even death. These disorders if are identified sciduria treated early, allow the healthy development of your baby or a better quality of life. Linked to chemical reactions in the body to create energy and build tissue. This information only has an educational purpos.

Knowing the presence of this mutation is a valuable asset because with the proper genetic counseling is possible to arginosuccinifa occurrence of these diseases in the future new members of the family. Early diagnosis plays a key role in the evolution of these diseases. Other search option s Alphabetical argiosuccinica.