PKU Why it sucks and Why we care

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PKUWhy it sucks and Why we care
Anne Baynes Amory Koch Joli Sucy
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History

• First recognized in the 1930s by Norwegian
  chemist/nutritionist Asbjorn Folling
• 1950s
• Realized that phenylalanine was building up in
  the body
• Developed diet to limit Phenylalanine intake
• 1960s
• Screening test for newborns instituted worldwide
  to assure early diagnosis

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What is PKU?

• Autosomal recessive inborn disorder of metabolism
• Caused by mutation in the phenylalanine
  hydroxylase (PAH) gene on human chromosome
  12q24.1
• There are over 400 documented mutations to the
  PAH gene
• Affects approximately 116,000 live births in the
  US each year

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WTF is Going On?

• The PAH gene codes for phenylalanine
  hydroxylase, the enzyme that converts the amino
  acid phenylalanine into tyrosine

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• The Cause of PKU

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Symptoms

• High levels of Phe in the urine and blood
• Mental Retardation
• Without the ability to dispose of excess Phe, it
  builds up in the brain, causing mental
  retardation
• Hepatomegaly

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Treatment

• Early detection via newborn screening
• Special low-protein diet
• With treatment early on, symptoms will be less
  severe and maybe even avoided
• Lots of companies on the internet sell specialty
  foods for various diets, including PKU diets

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Price Comparison for Special Food
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Legislation

• New legislation forces Health Care and Insurance
  companies to cover at least part of the cost of
  specialty food for Phenylketonurics.
• In PA, a Bill was passed in 1996 that covers the
  cost of formula for patients with PKU and MSUD.
  The coverage stops at 21 for males, but continues
  for life for females.

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• http//www.ygyh.org/pku/have09.htm

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Second Generations Symptoms (how the heck do you
get them?)

• Women with PKU stop treatment before becoming
  pregnant
• Levels of Phe build up in utero (versus in first
  generation where maternal PAH gene protects
  fetus)
• Symptoms more severe from earlier exposure to
  excessive Phe

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Second Generation Symptoms (and what the heck
they are)

• Neurofibromatosis A genetic disease
  characterized by the formation of neurofibromas,
  sometimes accompanied by physical deformation and
  a predisposition to brain tumors and various
  forms of cancer.
• Neurofibroma A usually benign tumor originating
  in peripheral nerve fibers and composed chiefly
  of Schwann cells.
• Pectus carinatum pigeon chest A chest deformity
  marked by a projecting sternum, often occurring
  as a result of infantile rickets.
• Pectus excurvatum funnel chest A hollow at the
  lower part of the chest caused by a backward
  displacement of the xiphoid cartilage.
• Inguinal hernia hernia in which a loop of
  intestine enters the inguinal canal the most
  common type of hernia in males
• Penile chordee Ventral curvature of the penis,
  most apparent on erection, as seen in hypospadias
  due to congenital shortness of the urethra.
• Hallucal varus hallucal-Relating to the first
  digit of the foot. Varus-Characterized by an
  abnormal inward turning of a bone, especially of
  the hip, knee, or foot
• Hemiplegia paralysis on one side of the body
• Hydronephrosis The dilation of the pelvis and
  calices of one or both kidneys because of the
  accumulation of urine resulting from obstruction
  to urine outflow.
• Hepatomegaly enlarged liver