The Manuela Martinez Foundation for Children with Metabolic Diseases has been created for the research, diagnosis and treatment of children with peroxisomal disorders and other lipid diseases.
DR Martinez has since discovered that most children with peroxisomal disorders have a DHA efficiency. DHA is important for brain and myelin development. Myelin starts to from at around 35 weeks gestation and continues until much later in life.
Since DHA deficiency is the main fatty acid abnormality in the brain in peroxisomal disorders, treatment should consist in giving a DHA preparation as pure as possible. This is the ethyl ester of DHA, better than 90% pure.
Since doing her research DR Martinez has noticed significant improvements in her patiens, especially with their MRI's. DR Martinez will continue her research as long as finances permit.
DR HUGO MOSER
Dr. Moser has focused his research on genetic disorders that affect the nervous system function in children, particularly those that involve a part of the cell referred to as the peroxisome.
There are 15 peroxisomal disorders that lead to mental retardation and nervous system disabilities. Dr. Moser helped to identify the characteristic biochemical abnormalities and the gene mutations that cause each of these disorders.
Neurogenetics Research and Peroxisomal Disease Diagnostic Laboratory This unit, which is headed by Dr. Hugo Moser, is concerned with the study, diagnosis and treatment of peroxisomal disorders. It is a highly specialized service.
His services include confirmation of diagnosis, precise definition of biochemical and genetic abnormalities; counseling; and the design and evaluation of new therapeutic approaches, utilizing protocols that have been approved by the Institutional Review Board and other appropriate agencies. Contact person is Pauline Green at 443-923-2772
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