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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Preventing conditions that can cause serious illness, intellectual disability and even death.

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Defects in this step of the urea cycle lead to an accumulation of plasma ammonia, argininosuccinic acid, citrulline, and urinary orotic acid, and to a plasma arginine deficiency.

Diagnostic methods Diagnosis is based mainly on clinical findings and laboratory test results. Antenatal diagnosis Prenatal diagnosis is possible in families with a known disease causing mutation on both alleles. Check this box if you wish to receive a copy of your message.

El tamizaje metabolico en el diagnostico de los errores innatos del metabolismo.

How is raginosuccinica analysis different of others? Molecular genetic testing confirms diagnosis. Long-term management involves dietary protein restriction as well as arginine supplementation.

This enzyme catalyzes the conversion of argininosuccinic acid into arginine and fumarate during the fourth step of the urea cycle. For all other comments, please send your remarks via contact us. Long-term complications associated with both forms of ASA include chronic hepatomegaly, liver dysfunction fibrosis or cirrhosisneurocognitive deficits i.

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Late-onset ASA is usually triggered by an acute infection, stress or after high protein intake. 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. In addition, this analysis identifies whether the child and potentially your family are healthy carriers of any of these mutations.

Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. Newborn screening for ASA is available in the U. This analysis includes all diseases currently carried in the newborns in the United States and Europe. Early diagnosis plays a key role in the evolution of these diseases. Genetic counseling ASA is inherited in an autosomal recessive manner and genetic counseling is advisable. Health care resources for this disease Expert centres Diagnostic tests 92 Patient organisations 42 Orphan drug s 6.

No dude en ponerse en contacto. The test is safe and presents no risk to your baby. 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.

It does not constitute advice or advice regarding any kind of diagnosis, or substitute for consultation with your doctor. Knowing the presence of this mutation is a valuable asset because with the proper genetic counseling is possible to prevent occurrence of these diseases in the future new members of the family.

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Diagnosis is based mainly on clinical findings and laboratory test results. What diseases does this analysis? Early medical treatment can allow your child to have a normal life, or minimize the consequences of the disease.

Seminario 3a: Aciduria Arginosuccinica by Lucia Rebollo on Prezi

The diseases included in this analysis can be classified into the following groups: SouthGenetics – Todos los Derechos Reservados. The analysis is done from a few acidyria of blood taken from the umbilical cord at birth or later through a heelstick. Patients often manifest liver dysfunction.

Some patients can be asymptomatic.

ASA can have a variable clinical picture with arginosuccinicw a neonatal-onset or a late-onset at any age outside the newborn period. Other search option s Alphabetical list. A presentation of late-onset cognitive impairment or learning disabilities in the absence of hyperammonemic episodes has also been reported.

The results are reported within 10 working days after sampling. Arterial hypertension can be treated by restoring nitric oxide deficiency.