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Mario Ricardo Maldonado Espinoza (Marito) was born November 29, 2003. He had multiple problems in the neonatal period. A lack of appetite and inconsolable cry was attributed to gastro-esophageal reflux. He developed neurological manifestations, including posturing and poor head control.

When he was 2 months old Marito was incorrectly diagnosed with Canavan Disease, a hereditary condition that is characterized by the degeneration of the white matter of the brain, when an MRI showed brain damage. Canavan is a fatal, degenerative disease, and the diagnosis left his parents feeling that there was little if anything they could do to help him. Marito was having convulsions as often as 50 times a day, he was blind, had very serious breathing problems, and slept poorly when he slept at all.

The family’s break came when a new neurologist told them of a visiting American missionary Doctor. The doctor was unable to personally examine Marito, but the family established Internet contact with him and sent blood and urine samples as well as his MRI images. Two months later, they were told that Marito had MSUD.

Marito began his metabolic formula, and the family sent blood samples to the US every 2 weeks for amino acid analysis. He was hospitalized for his breathing difficulties, but finally began to recover. On May 16, he was able to sleep the whole night without showing signs of pain. By 5 months he no longer convulsed, but remained blind due to damage to the retina which his doctors said was caused by leucine intoxication. A repeat MRI at 6 months of age showed huge improvements in the level of brain damage. Shortly thereafter, he began to see, and by 8 months was tracking objects.

Marito has had recurrent urinary tract infections which are treated with antibiotics but put him at risk for decompensation. He was diagnosed with and treated for rickets, a softening and weakening of the bones caused by vitamin D deficiency. His parents relate that he has been evaluated by more than 21 doctors.

His parents celebrate his advances. He is seeing better, and now has all his teeth! He has begun to talk, saying "mama", "papa", "casita", "Olga", his babysitter’s name and "amen". None the less, the family’s challenges remain. He still struggles with breathing and urinary problems, and receives therapy for his musculoskeletal weaknesses.

Marito is the only child diagnosed with MSUD in Honduras. There is no newborn screening in his country, no amino acid analysis, and no BCAA-free TPN for when he is in crisis (he has been in a metabolic crisis 9 times). His family sends blood samples to the Greenwood Genetic Center in South Carolina at a cost of $180 per sample. It typically takes 15 days to get results, and some disintegration of the sample may occur. In an emergency situation, the fastest turnaround from blood draw to results is 4 to 5 days. They purchase their metabolic formula directly from the manufacturer in the US at a cost of $322.50 per month.

The family is grateful to the families of the MSUD Support Group who have offered suggestions leading to improvements in Marito’s treatment. They are beholden to the medical staff at the Greenwood Genetic Center in South Carolina, as well as the many health care providers who have worked so hard to help him. Their strong religious faith has been instrumental throughout. As Marito’s father Luis says...

"But their Supreme Doctor is God without which anything is possible, without Him no treatment is effective..."

Marito’s story was published in a professional journal as a case study. The citation is: Wood, T. et al: Diagnostic and management challenges presented by MSUD in a developing country (Honduras, C.A.). Proceedings of the Greenwood Genetic Center, Volume 24, pages 34-38, 2005.

CHANGE THE LIVES OF MSUD ADULTS AND CHILDREN

The MSUD Family Support Group is currently funding several research projects and we are proactively looking for researchers interested in developing new treatments or finding a cure for MSUD. Significant funding is necessary if we are to accomplish this goal.
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