ACIDEMIA PROPIONICA PDF

Propionic acidemia is an inherited disorder in which the body is unable to process certain parts of proteins and lipids (fats) properly. It is classified as an organic. The spectrum of propionic acidemia (PA) ranges from neonatal-onset to late- onset disease. A number sign (#) is used with this entry because propionic acidemia is caused by mutation in the genes encoding propionyl-CoA carboxylase, PCCA ().

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Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted.

For all other comments, please send your remarks via contact us. Only comments written in English can be processed. Propionic acidemia PA is an organic aciduria caused by the deficient activity of the propionyl Coenzyme A carboxylase propiohica is characterized by life threatening episodes of metabolic decompensation, neurological dysfunction and that may be complicated by cardiomyopathy.

The prevalence rate is probably about 1 inlive births worldwide. A high prevalence rate is noted in certain countries like Saudi Arabia. Propionic acidemia can present in one of the following forms: In the severe neonatal onset form, the affected infants present with symptoms of metabolic intoxication poor feeding, vomiting, altered sensorium and pancytopenia within several hours to weeks after birth. In the intermittent late onset form, the disease presents after a year or even later in life with episodes of metabolic decompensation provoked by periods of catabolic stress like fever, vomiting and trauma.

Patients may also present xcidemia acute neurological crisis characterized by dystonia, rigidity, choreoathetosis and dementia due to infarction of basal ganglia.

In the chronic progressive form, the disease presents as failure to thrive, chronic vomiting, psychomotor delay, hypotonia, seizures and movement disorders. Intellectual disability, optic neuropathy, cardiomyopathy, long QT syndrome, pancreatitis, dermatitis, and immune dysfunction are known complications. Extended newborn screening test identifies PA by detecting an elevated level of propionyl carnitine.

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Symptomatic cases present during metabolic decompensation with acidosis, ketosis, increased anion gap, hyperlactatemia, hyperglycinemia, hyperammonemia, hypoglycemia and cytopenias. Urine analysis by gas chromatography-mass spectrometry reveals a characteristic pattern with 3 hydroxy propionate, methyl citrate, propionyl glycine and propionyl propionixa that persists in between crisis.

Rpopionica diagnosis includes neonatal sepsis, other branched chain organic acidurias, pyloric stenosis or other common causes of increased anion gap acidosis. In the infantile chronic form, failure to thrive, chronic vomiting and neutropenia may mimic cow milk intolerance, celiac disease see this term or immune deficiencies.

OMIM Entry – # – PROPIONIC ACIDEMIA

Prenatal diagnosis can be made by measuring propionyl carnitine, methyl citrate and 3 hydroxy propionate in the amniotic fluid or by DNA assay or direct enzyme assay in families with a known mutation.

Confirmation of the diagnosis is not indispensable to start the treatment. Propionkca of catabolism by stopping protein intake and administering non-protein calories in the form of intravenous fluids is the mainstay of treatment of a crisis. Hyperammonemia is treated by administering sodium benzoate, carbamyl glutamate or by hemodialysis.

Nutrition management, in particular protein restriction, is a cornerstone to the long term treatment of patients with PA. Growth is regularly monitored. Carnitine supplementation helps in detoxification. Avoiding metabolic decompensation and promptly treating the episodes with standard treatment may improve intellectual outcome.

Early detection and treatment has led to a reduction in the mortality rate acidema the first year of life and improved survival rates in early and mid-childhood but morbidity in terms of impaired cognitive development remains high. The question whether a liver transplantation can be performed early in infancy to improve the prognosis is still under investigation. Other search option s Alphabetical list.

Summary and related texts. Check this box if you wish to receive a copy of your message. Disease definition Propionic acidemia PA prpoionica an organic aciduria caused by the deficient activity of the propionyl Coenzyme A carboxylase and is characterized by life threatening episodes of metabolic decompensation, neurological dysfunction and that may be complicated by cardiomyopathy.

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InfancyNeonatal ICD Summary Epidemiology The prevalence rate is probably about 1 inlive births worldwide.

Propionic acidemia

Clinical description Propionic acidemia can present in one of the following forms: Diagnostic methods Extended newborn screening test identifies PA by detecting an elevated level of propionyl carnitine.

Differential diagnosis Differential diagnosis includes neonatal sepsis, other branched chain organic acidurias, pyloric stenosis or other common causes of increased anion gap acidosis.

Antenatal diagnosis Prenatal diagnosis can be made by measuring propionyl carnitine, methyl citrate and 3 hydroxy propionate in the amniotic fluid or by DNA assay or direct enzyme assay in families with a known mutation.

Genetic counseling Inheritance is autosomal recessive. Management and treatment Confirmation of the diagnosis is not indispensable to start the treatment.

Propionic Acidemia – GeneReviews┬« – NCBI Bookshelf

Prognosis Early detection and treatment has led to a reduction in the mortality rate in the first year of life and improved survival rates in early and mid-childhood but morbidity in terms of impaired cognitive development remains high.

Professionals Summary information Polskipdf Suomipdf Russianpdf Emergency guidelines Englishpdf Clinical practice proplonica English Clinical genetics review English Additional information Further information on this disease Classification s 2 Gene s 2 Clinical signs and symptoms Publications in PubMed Other website s Health care resources for this disease Expert centres Diagnostic tests Patient organisations 44 Orphan drug s 2.

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The documents proionica in this web site are presented for information purposes only. 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.

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