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Manuela Martinez Foundation

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The Manuela Martinez Foundation for Children with Metabolic Diseases was founded in 2002 for the research, diagnosis and treatment of children with peroxisomal disorders and other lipid diseases. The founder, Dr Manuela Martinez, is a doctor of medicine, paediatrician and biochemist, dedicated since 1972 to the study of the developing human brain and the influence of nutrition on brain maturation. Dr Martinez's research career began with a primary interest in the role of lipids and fatty acids in myelination - the development of a fatty substance known as the myelin sheath that covers and 'insulates' nerve fibres in the central nervous system, allowing efficient transmission of neurological signals. However in 1987 her research took a new course when she discovered a severe deficiency of a crucial fatty acid - docosahexaenoic acid (DHA) - in patients with Peroxisome Biogenesis Disorders (PBDs). DHA is believed to be the most important omega-3 Polyunsaturated Fatty Acid in cell membranes, especially in the brain and photoreceptor cells of the retina. This led Dr Martinez to hypothesise that the DHA deficiency found in peroxisomal disorders could be the cause of much of the damage observed in these patients, or at least could contribute to some of their symptoms, such as blindness and neurological disease. In 1991 Dr Martinez devised a new therapy for PBD patients based on the correction of this DHA deficiency, resulting in significant benefits for patients with relatively mild variants of the PBDs. Results indicate that the levels of DHA in the brain and retina can be restored, whilst other biochemical improvements have been observed such as increases in the levels of beneficial plasmalogens and decreases in the levels of very long chain fatty acids, which can be harmful if allowed to accumulate. Clinically, DHA therapy has produced improvements in liver, visual and neurological functioning, with marked improvements in myelination. For her research work on human brain development and peroxisomal diseases, Dr Martinez received Spain's Queen Sofia Prize for Research on the Prevention of Deficiencies (1998) and the King James I Prize for Research in Clinical Medicine (2001). A summary of her key findings since 1972 are as follows: - The accumulation of lipids and fatty acids in the developing human brain starts to accelerate markedly at 30-32 weeks gestational age. These changes correlate with key markers of brain development observed by other authors. - The accumulation of Polyunsaturated Fatty Acids, especially DHA, is at a maximum between 30 weeks and the end of gestation, but continues until about 2 years of age. - The buildup of lipids in premature and newborn infants demonstrates an unexpected distribution profile, showing that the forebrain myelinates faster than the cerebellum and is therefore more vulnerable to malnutrition. - Myelin in the newborn and young infant is biochemically quite mature from the beginning and very similar to that in the adult brain. Nutritional deficiencies affect the quantity rather than the quality of the myelin - another unexpected result. - An excess of linoleic acid may be damaging to the premature infant, leading to a decrease of DHA in neural tissues and the retina. - In humans malnutrition and administration of diets with unbalanced omega-3 to omega-6 ratios may lead to suboptimal DHA levels in the retina and other tissues. - 1987 study revealed that the brain, liver and kidneys of a patient with Zellweger syndrome had extremely low levels of DHA. - Treatment of PBD patients with DHA therapy resulted in marked improvements in myelination, suggesting an important role for DHA in the formation of myelin during early brain development The Manuela Martinez Foundation is based in Barcelona, Spain, but treats children from all over the world, bringing hope to many families and improving the understanding of these conditions. The Foundation is entirely dependent on charitable donations, education facilities and grants as well as parents and local businesses for continuation of its work. Contact Information Dr. Manuela Martinez, M.D. Stauros Children's Clinic Plaza Karl Marx, s/n 08035 Barcelona, Spain Teléfono: (+34) 93 427 6000 e-mail addresses: 3572mmr@comb.es ----------------------------------------- Manuela Martinez Foundation Gran Vía, 750, 6-1 08013 Barcelona, Spain Teléfono: (+34) 93 231 62 http://www.martinezfoundation.org/