Tyrosinemia

Tyrosinemia is an error of metabolism, usually inborn, in which the body cannot effectively break down the amino acid tyrosine. Symptoms of untreated tyrosinemia include liver and kidney disturbances. Without treatment, tyrosinemia leads to liver failure. Today, tyrosinemia is increasingly detected on newborn screening tests before any symptoms appear. With

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Organic Acedemia(MMA,PCC)

Methylmalonic acidemia ( MMA )Methylmalonic acidemia , also called methylmalonic acidurias is an autosomal recessive metabolic disorder that disrupts normal amino acid metabolism. It is a classical type of organic acidemia. The result of this condition is the inability to properly digest specific fats and proteins, which in turn leads

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PKU (Phenylketonuria)

  Phenylketonuria (PKU) is a metabolic disorder that results in decreased metabolism of the amino acid phenylalanine. Untreated, PKU can lead to intellectual disability, seizures, behavioral problems. A baby born to a mother who has poorly treated PKU may have heart problems, a small head, and low birth weight., and

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Yellowstone 2011

MY ACTIVITIES (Visit to Yellowstone) In 2000 I went with my family to Yellowstone. We had to drive about 1000 miles from Redondo Beach in California to Yellowstone National Park, which is in Wyoming. It took about 36 hours. For this reason we had to stay overnight in Utah. While

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