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    Enzyme Deficiencies - Compiled

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    parker
    This document lists various enzyme deficiencies and the resulting diseases, deficiencies, and accumulations. It describes over 30 metabolic disorders caused by deficiencies in enzymes involved in amino acid, organic acid, and purine/pyrimidine metabolism. The deficiencies disrupt metabolic pathways, leading to toxic accumulations of substrates or deficiencies of important compounds. Common effects include hyperammonemia, accumulation of amino acids, and organic acidemias. The document provides an overview of the relationships between genetic enzyme defects, disrupted biochemical pathways, and clinical manifestations of various inherited metabolic diseases.

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    Enzyme Deficiencies - Compiled

    Uploaded by

    parker
    16 views2 pages
    This document lists various enzyme deficiencies and the resulting diseases, deficiencies, and accumulations. It describes over 30 metabolic disorders caused by deficiencies in enzymes involved in amino acid, organic acid, and purine/pyrimidine metabolism. The deficiencies disrupt metabolic pathways, leading to toxic accumulations of substrates or deficiencies of important compounds. Common effects include hyperammonemia, accumulation of amino acids, and organic acidemias. The document provides an overview of the relationships between genetic enzyme defects, disrupted biochemical pathways, and clinical manifestations of various inherited metabolic diseases.

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    ENZYME DEFICIENCIES - COMPILED

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    This document lists various enzyme deficiencies and the resulting diseases, deficiencies, and accumulations. It describes over 30 metabolic disorders caused by deficiencies in enzymes involved in amino acid, organic acid, and purine/pyrimidine metabolism. The deficiencies disrupt metabolic pathways, leading to toxic accumulations of substrates or deficiencies of important compounds. Common effects include hyperammonemia, accumulation of amino acids, and organic acidemias. The document provides an overview of the relationships between genetic enzyme defects, disrupted biochemical pathways, and clinical manifestations of various inherited metabolic diseases.

    Copyright:

    © All Rights Reserved
    Download as PDF, TXT or read online from Scribd
    Flag for inappropriate content
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    16 views2 pages

    Enzyme Deficiencies - Compiled

    Uploaded by

    parker
    This document lists various enzyme deficiencies and the resulting diseases, deficiencies, and accumulations. It describes over 30 metabolic disorders caused by deficiencies in enzymes involved in amino acid, organic acid, and purine/pyrimidine metabolism. The deficiencies disrupt metabolic pathways, leading to toxic accumulations of substrates or deficiencies of important compounds. Common effects include hyperammonemia, accumulation of amino acids, and organic acidemias. The document provides an overview of the relationships between genetic enzyme defects, disrupted biochemical pathways, and clinical manifestations of various inherited metabolic diseases.

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    of 2

    ENZYME DEFICIENCIES

    DISEASES DEFICIENCY / DEFECT ACCUMULATION


    GYRATE ATROPHY OF RETINA / CHOROID δ ORNITHINE AMINOTRANSFERASE ORNITHINE

    HYPERAMMONEMIA I CARBAMOYL PHOSPHATE SYNTHETASE I AMMONIA


    HYPERAMMONEMIA II / OROTIC ACIDURIA ORNITHINE TRANSCARBAMOYLASE AMMONIA, OROTIC ACID
    CITRULLINEMIA I ARGINOSUCCINATE SYNTHETASE CITRULLINE
    CITRULLINEMIA II CITRIN TRANSPORTER CITRULLINE
    ARGINOSUCCINIC ACIDEMIA ARGINOSUCCINATE LYASE ARGINOSUCCINATE
    ARGININEMIA ARGINASE ARGININE
    HHH SYNDROME ORNITHINE PERMEASE / TRANSPORTER AMMONIA, ORNITHINE, CITRULLINE

    CLASSIC PHENYLKETONURIA (PKU I) PHENYL ALANINE HYDROXYLASE


    PHENYLALANINE, PHENYLPYRUVATE,
    NON CLASSIC PKU (II & III) DIHYDROBIOPTERIN REDUCTASE
    PHENYLACETATE
    SEGAWA SYNDROME / NON CLASSIC PKU (IV & V) GTP CYCLOHYDROLASE
    TYROSINEMIA I / HEREDITARY/ HEPATORENAL
    FUMARYL ACETOACETATE HYDROLASE FUMARYL ACETOACETATE
    TYROSINEMIA
    TYROSINEMIA II / OCULOCUTANEOUS/ RICHNER
    TYROSINE TRANSAMINASE TYROSINE
    HANHART SYNDROME
    TYROSINEMIA III / NEONATAL TYROSINEMIA PHPP HYDROXYLASE / 4-HPPD PHPP
    HAWKINSINURIA PHPP HYDROXYLASE / 4-HPPD (PARTIALLY ACTIVE) PHPP
    ALBINISM I TYROSINASE (COMPLETE DEFICIENCY) TYROSINE
    ALBINISM II (M/c) TYROSINASE (PARTIAL DEFICIENCY) TYROSINE
    ALKAPTONURIA HOMOGENTISATE OXIDASE HOMOGENTISATE & BENZOQUINONE ACETATE
    INFANTILE PARKINSONISM TYROSINE HYDROXYLASE

    CLASSIC HOMOCYSTINURIA CYSTATHIONINE β SYNTHASE HOMOCYSTEINE & METHIONINE


    NON CLASSIC HOMOCYSTINURIA N5 METHYL THFA / METHYL COBALAMINE HOMOCYSTEINE & CYSTEINE
    CYSTATHIONINURIA CYSTATHIONASE
    DIBASIC AMINO ACID TRANSPORTER
    CYSTINURIA
    (INTESTINE & KIDNEY)
    CYSTINOSIS CYSTINE TRANSPORTER (CYSTINOSIN)
    OASTHOUSE SYNDROME/
    METHIONINE TRANSPORTER (INTESTINE)
    SMITH STRANG DISEASE
    PRIMARY HYPERMETHIONINEMIA MAT I & MAT III

    BOAT I (NEUTRAL AMINO ACID TRANSPORTER FROM


    HARTNUP'S DISEASE
    INTESTINE & RENAL TUBULES)

    Compiled by
    Dr. Bhargav Shreeram. G
    ENZYME DEFICIENCIES

    BOAT I (NEUTRAL AMINO ACID TRANSPORTER FROM


    DRUMMOND SYNDROME / BLUE DIAPER SYNDROME
    INTESTINE ONLY)
    MAPLE SYRUP URINE DISEASE BRANCHED CHAIN KETOACID DEHYDROGENASE (BCKD) LEUCINE, ISOLEUCINE, VALINE
    ISOVALERIC ACIDURIA ISOVALERYL CoA DEHYDROGENASE ISOVALERYL CoA

    HYPERVALINEMIA VALINE TRANSAMINASE


    HISTIDINEMIA HISTIDASE
    HYPERPROLINEMIA PROLINE OXIDASE

    TYPE I PRIMARY HYPEROXALURIA GLYOXYLATE ALANINE AMINOTRANSFERASE GLYOXYLATE & OXALIC ACID
    TYPE II PRIMARY HYPEROXALURIA GLYCERIC ACID DEHYDROGENASE GLYOXYLATE & OXALIC ACID
    CANAVAN DISEASE ASPARTOACYLASE N-ACETYL ASPARTATE (NAA)
    TRIMETHYLAMINE OXIDASE
    FISH ODOUR SYNDROME / TRIMETHYLAMINURIA TRIMETHYLAMINE
    (FLAVIN DEPENDANT MONOOXYGENASE)

    HYPOXANTHINE GUANINE PHOSPHORIBOSYL TRANSFERASE


    LESCH NYHAN SYNDROME HYPOXANTHINE / GUANINE
    (COMPLETE DEFICIENCY)
    HYPOXANTHINE GUANINE PHOSPHORIBOSYL TRANSFERASE
    KELLEY SEEGMILLER SYNDROME HYPOXANTHINE / GUANINE
    (PARTIAL DEFICIENCY)
    OROTIC ACIDURIA I UMP SYNTHASE (OPRTase + OMP DECARBOXYLASE) OROTATE
    OROTIC ACIDURIA II OMP DECARBOXYLASE OROTATE

    Compiled by
    Dr. Bhargav Shreeram. G

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