Urea Cycle Disorder

A urea cycle disorder is a genetic disorder caused by a mutation that results in a deficiency of one of the six enzymes in the urea cycle. These enzymes are responsible for removing ammonia from the blood stream. The urea cycle involves a series of biochemical steps in which nitrogen,

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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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MSUD (Maple Syrup Urine Disease)

MSUD is an autosomal recessive metabolic disorder affecting branched-chain amino acids. It is one type of organic academia. The condition gets its name from the distinctive sweet odor of affected infants’ urine, particularly prior to diagnosis, and during times of acute illness. Maple syrup urine disease can be classified by

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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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