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  • Metabolic Disorders 2

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    Chynna Izzabelle Alcantara Abellana
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    Phenylketonuria is an autosomal recessive disorder caused by a lack of the enzyme phenylalanine hydroxylase, resulting in a buildup of phenylalanine. Symptoms include black urine and developmental delays if left untreated. Treatment involves eliminating phenylalanine from the diet. Maple syrup urine disease is caused by defects in branched chain amino acid breakdown, leading to a buildup of leucine, isoleucine, and valine. It results in a sweet-smelling dark urine and can cause vomiting and metabolic acidosis in newborns if untreated. Organic acidemias involve defects in breaking down certain amino acids, causing a buildup of organic acids and symptoms like

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    Phenylketonuria is an autosomal recessive disorder caused by a lack of the enzyme phenylalanine hydroxylase, resulting in a buildup of phenylalanine. Symptoms include black urine and developmental delays if left untreated. Treatment involves eliminating phenylalanine from the diet. Maple syrup urine disease is caused by defects in branched chain amino acid breakdown, leading to a buildup of leucine, isoleucine, and valine. It results in a sweet-smelling dark urine and can cause vomiting and metabolic acidosis in newborns if untreated. Organic acidemias involve defects in breaking down certain amino acids, causing a buildup of organic acids and symptoms like

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    © All Rights Reserved
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    16 views1 page

    Metabolic Disorders 2

    Uploaded by

    Chynna Izzabelle Alcantara Abellana
    Phenylketonuria is an autosomal recessive disorder caused by a lack of the enzyme phenylalanine hydroxylase, resulting in a buildup of phenylalanine. Symptoms include black urine and developmental delays if left untreated. Treatment involves eliminating phenylalanine from the diet. Maple syrup urine disease is caused by defects in branched chain amino acid breakdown, leading to a buildup of leucine, isoleucine, and valine. It results in a sweet-smelling dark urine and can cause vomiting and metabolic acidosis in newborns if untreated. Organic acidemias involve defects in breaking down certain amino acids, causing a buildup of organic acids and symptoms like

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    © All Rights Reserved
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    of 1

    • Black alkaline urine, possible black-stained

    diapers
     Phenylketonuria • Manifests later in life with brown pigment
    – 1 in 10,000 to 20,000 births deposits in tissues
    – Autosomal recessive; heterozygotes • Urine: blue with ferric chloride, yellow
    normal precipitate with Clinitest, black with silver
    – Eliminate phenylalanine from diet (milk) nitrate and ammonium hydroxide;
    – Damage to child’s mental capacity quantitative tests available
    – Alternate pathways as child matures
    – Avoid ↑ phenylalanine foods (aspartame) Branched Chain Amino Acid Disorders
    – Phenylalanine hydroxylase is missing • Amino acids with a methyl group that
    – Urine test: branches from the main aliphatic carbon
    - Urine and 5% ferric chloride chain
    produces a permanent green- • Two groups
    blue color 1. Maple syrup urine disease (MSUD); early
    degradation products accumulate
     Tyrosyluria/Tyrosinemia 2. Organic acidemias; accumulation of organic
    • Metabolic defects acids further down in pathway
    – Premature transient tyrosinemia • Ketonuria in a newborn
    • Underdevelopment of liver
    function  Maple Syrup Urine Disease (MSUD)
    – Acquired severe liver disease • Inborn error of metabolism, autosomal
    • Hereditary defects recessive
    – Type 1: enzyme deficiency is • Amino acids involved are leucine,
    fumarylacetoacetate acid hydrolase; isoleucine, and valine
    renal tubular disease and liver failure • 1-week failure to thrive is noticed
    in infants • Urine: strong odor of maple syrup, and
    – Type 2: enzyme deficiency is thick, dark appearance
    tyrosine aminotransferase; corneal • Dietary regulation by day 11 shows good
    erosion and lesions on hands and outcomes
    feet • Positive urine ketones
    – Type 3: enzyme deficiency is p- • Screening test 2,4-dinitrophenylhydrazine
    hydroxyphenylpyruvate oxidase; produces yellow precipitate turbidity
    mental retardation if no dietary
    restrictions (milk) Organic Acidemias
    • Screening tests • Early: severe vomiting, metabolic acidosis,
    – Screening tests using MS/MS are hypoglycemia, ketonuria
    available for tyrosinemia types 1, 2, • Isovaleric, propionic, methylmalonic
    and 3 acidemias
    • Isovaleric: “sweaty feet odor” from patient
     Melanuria – Deficiency of isovaleryl coenzyme A
    • Second pathway for tyrosine • Propionic and methylmalonic: no
    – Melanin, thyroxine, epinephrine, conversion of valine, threonine,
    protein, and tyrosine sulfate methylmalonate to succinyl coenzyme A
    • Melanin • Isovaleric, propionic, and methylmalonic
    – Pigment for dark hair, skin acidemias can be detected by newborn
    – Defect causes albinism screening programs using MS/MS
    – Increased production = malignant
    melanoma
    – 5,6-dihydroxyindole
    • Dark urine from oxidation of
    melanogen to melanin

     Alkaptonuria
    • Enzyme deficiency is caused by a failure to
    inherit the gene to produce the enzyme
    homogentisic acid oxidase
    • Third major defect in the phenylalanine-
    tyrosine pathway

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