URINE SCREENING FOR METABOLIC DISORDERS

• This is the disruption of normal metabolic pathway that caused increase plasma concentration of the non- metabolized substance

  Overflow
• This is caused by malfunction in the tubular reabsorption mechanism:

  Renal type
• What is the specimen used for Newborn screening test?

  blood collected by infant heel puncture
• What is the test used for Newborn screening test:

  Tandem Mass Spectrophotometry (MS/MS)
• Most well known amino aciduria?

  Phenylketonuria (PKU)
• Who and when Phenylketonuria discovered?

  Ivan Folling - 1934
• Odor of the urine of a person who has Phenylketonuria?

  Mousy-odor
• PKU is due to failure to inherit gene that produce what enzyme?

  Phenylalanine hydroxylase
• In PKU, the blood should be collected between what time after birth?

  24-48 hours
• Phenylalanine can be detected in newborn's urine as early as __ after birth:

  4 hours
• This test can be used as follow up test to ensure proper dietary control for PKU cases

  Ferric Chloride test
• The accumulation of excess tyrosine in the plasma producing urinary overflow is?

  Tyrosyluria
• This is the least serious type of Tyrosyluria and most seen in premature infants caused by underdeveloped liver?

  Transitory Tyrosinemia
• What is enzyme deficient in Type 1 tyrosyluria?

  fumarylacetoacetate hydrolase (FAH)
• Type 1 tyrosyluria can be diagnose by the detection of __ in urine and blood?

  tyrosine and succinyl acetone
• Confirmatory test for Type 1 tyrosyluria?

  Molecular Genetic testing
• Type 2 tyrosyluyria is deficient of what enzyme?

  Tyrosine aminotransferase
• Clinical symptoms of Type 2 tyrosyluria are corneal erosion and lesions on the palms, fingers and soles of the feet which is due to?


  Crystallization of tyrosine in the cells.
• Type 2 tyrosyluria can be diagnosed by testing?

  Plasms Tyrosine
• Patients who have type 2 tyrosyluria have elevated __ in their urine?

  4-hydroxy-phenylpyruvic acid
• Lack of this enzyme can cause Type 3 tyrosyluria

  p-hydroxy-phenylpyruvic acid dioxygenase
• Urine metabolites found in people who has Type 3 tyrosyluria:

  4-hydroxyphenylpyruvic acid, 4-hydrixyphenyllactic, 4-hydroxyphenylacetic acid
• This is the pigment responsible for dark color of eyes, hair and skin.

  Melanin
• What are the 4 amino acid disorders?

  Phenylketonuria (pku)

  Tyrosyluria

  Melanuria

  Alkaptonuria
• deficiency in melanin can cause what condition?

  Albinism
• Increased melanin in urine which makes it dark after exposure in air is called?

  Melanuria
• Elevated melanin in the urine indicates proliferation of melanocytes producing what?

  Melanoma
• Discovered Alkaptonuria

  Garrod, 1902
• "Alkali -lover" denotes

  Alkaptonuria
• In Alkaptonuria, the urine turns __ after becoming alkaline from standing at room temp


  dark
• Urine turns black

  Melanuria & Alkaptonuria
• In Alkaptonuria, there's a failure to inherit gene in producing what enzyme?

  Homogenstic acid oxidase
• Color of diapers of the newborn who has Alkaptonuria


  brown-black or reddish stained
• This term means that there is a deposition of brown pigment in the tissue

  Ochronosis
• An overflow disorder that could produce a false-positive reaction with the Clinitest procedure is

  Alkaptonuria
• Screening test for Homogenstic acid:

  Ferric Chloride and Silver Nitrate test
• Major interference for Homogenstic acid screening test:

  Ascorbic acid
• Use to quantitate homogentsic acid

  GCMS
• This is used to treat alkaptonuria as it hinders the deposition of homogenstic acid

  Vitamin C
• Branch chain amino acids may differ from other amino acids by having?

  Methyl group that branches from the main aliphatic carbon chain