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Amino Acidurias

TYR II

November 30, 2016

An inherited disorder which affects the second enzyme in the body cannot process a particular protein building block (amino acid) called Tyrosine. …

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TYR 1

November 30, 2016

An inherited disorder in which the body cannot process a particular protein building block (amino acid) called Tyrosine. This disorder leads to liver …

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Hypermethioninemia (MET)

November 30, 2016

An inherited disorder in which the body cannot process a particular protein building block (amino acid) called Methionine. …

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New Born Disorders

  • Amino Acidurias
    • Pyruvate Carboxylase Deficiency
    • PKU and Hyperphe
    • TYR III
    • TYR II
    • TYR 1
    • Hypermethioninemia (MET)
    • Homocystinuria
  • Disorders of Immune Function
    • Adenosine Deaminase deficiency (ADA)
    • ZAP70-Related Severe Combined Immunodeficiency
    • X-linked SCID
  • Disorders of Sugar Metabolism
    • GALE
    • GALK 1
    • Classic Galactosemia (GALT)
    • M/SCHADD
  • Disorders of Vitamins & Cofactors
    • Defects of Biopterin Cofactor Biosynthesis / Biopterin Cofactor Regeneration
    • Biotinidase Deficiency (BIOT)
  • Fatty Acid Oxidation and Ketone Disorders
    • VLCAD
    • Trifunctional Protein Deficiency (TFP)
    • LCHAD
    • MCKAT
    • MCAD
    • SCAD
    • CPT II
    • CPT IA
    • CACT
    • CUD
    • BKT
  • Lysomol Storage Diseases
    • Pompe Disease
    • Niemann-Pick Disease
    • Krabbe Disease
    • Gaucher Disease
    • Fabry Disease
  • Organic Acidurias
    • Propionic Acidemia
    • Methylmalonic Acidemia
    • Malonic Academia (MAL)
    • IBD
    • Isovaleric Acidemia
    • GA-II
    • GA-1
    • DE Red
    • 3MGA
    • 2MGB
    • 2M3HBA
    • HMG
    • 3-MCC Deficiency
  • Thyroid/Adrenal/Other Gland Disorders
    • VAR HB
    • Sickle-Haemobglobin C Disease (HB S/C)
    • Cystic Fibrosis (CF)
    • Congenital Hypothyroidism (CH)
    • CAH
    • Congenital Adrenal Hyperplasia
  • Urea Cycle Disorders
    • CIT II
    • Citrullinemia (CIT)
    • Arginase Deficiency (ARG)
    • Argininosuccinic Aciduria (ASA)

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