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Projects. Life and Earth Sciences

Propionic acidemia: a study which has the aim of optimising its nutritional treatment, metabolic control and quality of life

Lead Researcher:
Mercedes Martínez-Pardo Casanova

Research Centre:
CSUR (Centro de Referencia Nacional) de Enfermedades Metabólicas poco frecuentes.
Hospital Universitario Ramón y Cajal. Madrid.

Abstract: 

Mercedes Martínez-Pardo CasanovaPropionic acidemia (PA, OMIMID: 606054) is a congenital metabolic disorder caused by Propionyl CoA Carboxylase (PCC; EC 6.4.1.3) deficiency, which converts Propionyl CoA (PCoA) into D-Methylmalonyl CoA; its frequency of occurrence is 1/100,000 live births, and it is inherited as recessive and autosomic. The accumulation of PCoA produces several mitochondrial disorders: metabolic acidosis (accumulation of ketonic, lactate and organic acids), inhibition of the urea cycle with hyperammoniemia, amino acid metabolic imbalance with hyperglycinemia and a reduction in branched fatty acids and an increase in the synthesis of odd-numbered long-chain fatty acids (OLCFA).

Clinically this disease commences with encephalopathy, serious metabolic acidosis, ketosis, hyperammoniemia, etc. and has subsequent serious after-effects. Biochemical control of the patient takes place in plasma (aminogram, acylcarnitines, OLCFA) and urine (organic acids). Treatment is with a diet that restricts natural proteins and cholesterol, giving special proteins that contain no methionine, threonine, valine or isoleucine and supplements with carnitine, while flagyl also has to be used to reduce intestinal flora. Its slow evolution may present progressive encephalopathy, myocardiopathy and anaemia that does not regenerate in spite of treatment.

There are no unique biochemical parameters for good or bad metabolic control to show that the diet is suitable, as the amount of proteins may vary in each patient, nor are there any predictive criteria for the evolution of patients with PA. We monitor so many that control is arduous and expensive for patients due to the taking of venous blood samples, for families because of travel and expenses, as well as the cost of health care.

The aims of this project are:

  • To determine which biochemical tests are suitable and informative regarding patient state using monthly blood and urine samples deposited on paper in the patient's home. It is currently only possible to test for OLCFA and Coenzyme Q10 in liquid plasma every 3 months.
  • To discover the frequency at which tests should take place to optimise nutritional and metabolic treatment.
  • To avoid unnecessary travel by the family.



Mercedes Martínez-Pardo Casanova

PhD. MD in Medicine, specialising in Paediatrics (1974) and metabolic diseases (1978). Attending Physician in Paediatrics in the Ramón y Cajal Teaching Hospital, Madrid, and from 1979 Head of the Paediatric Service Metabolic Diseases Unit.

Her lines of research since 1980 have involved clinical and molecular studies and new treatments for metabolic diseases: aminoacid pathologies, organic acidemias, hyperammoniemias, lisosomal diseases, mitochondrial cytopathologies, hypoglycaemias, etc. having taken part as IP or IC in several research projects with public and/or private financing.

She is co-author of more than 50 original works and several chapters in books, and is professor of several doctoral courses and master's degrees on treatments and genetic studies in metabolic diseases.

She is a founder member of the Sociedad Española de Gastroenterología, Hepatología y Nutrición Pediátricas (SEGHN), of the Asociación Española para el estudio de los Errores Congénitos del Metabolismo (AECOM) and the Instituto Nacional de Enfermedades Poco Frecuentes (INDEPF), and she is also a member of the Society for the Study of Inborn Errors of Metabolism (SSIEM).

She has been expert advisor to the Ministry of Health since 1993 for the treatment of metabolic diseases and to the Committee of Experts Advising on Neonatal Screening since 1990.

In 1998 she was awarded the Research Prize of the Royal Pharmaceutical Academy, and in 2011 won the Medal of Honour with a Silver Distinction of the Board of Health of Madrid Health Service.

She currently coordinates the Metabolic Diseases CSUR of Ramón y Cajal Teaching Hospital.


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