Metabolic Disease Flashcards by LUIMER RAMOS

Result from disruption of a normal metabolic pathway that causes increased plasma concentrations of arz the non-metabolized substances; over ride reabsorption ability of the tubules are not normally reabsorbed from the filtrate

Overflow

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Due to defective tubular reabsorption of amino acids

Renal

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Tubules in
the nephron are no longer reabsorbing certain amino acids

Renal

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Failure to inherit a gene that codes for a particular enzyme

Inborn error of metabolism

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Testing for many substances is now performed using

Tandem Mass Spectrophotometry

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It is capable of screening infant blood sample for specific substances associated with particular IEMs

Tandem Mass Spectrophotometry (MS/MS).

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Homogentisic acid color

Black

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Affect the color tho not directly

Melanin

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Indican color

Dark/bluish color

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Porphyrins color

Pink to reddish brown or purple

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Most well known of the aminoacidurias

Phenylketonuria

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Most well known of the aminoacidurias

Phenylketonuria

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Phenylketonuria: negative for the gene that codes for?

Phenylalanine hydroxylase

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Phenylketonuria: negative for the gene that codes for

Phenylalanine hydroxylase

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Screnung test for pku

FeCl3 tube tes
Phenistix strip

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Pku: FeCl3 positive color

Blue green color

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Pku: phenistix color

Gray to gray green color

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GBIT: B.subtilis is cultured with?

Beta-2-thienylalanine (TE)

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counteracts the action of B2-TE

Phenylalanine

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Guthrie bacterial inhibition test aka

Guthrie’s microbial inhibition assay

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Most well known teit for phenylketonuria

Guthrie bacterial inhibition test’

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Blood sample from the heel stick and placed on filter paper disc
• placed in culture media incorporated with Beta-2-thienylalanine which serves as an inmoitor for B-subtilis
(+): Growth of the organism

Guthrie bacterial inhibition test’

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accumulation of excess tyrosine in the plasma (tyrosinemia)
producing urinary overflow

Tyrosyluria

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Tyrosyluria: (-) for a gene that decodes for:
Type 1:

Fumarylacetoacetate hydrolase (FAH)

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Tyrosyluria: (-) for a gene that decodes for: Type 2:

Tyrosine aminotransferase

Tyrosyluria: (-) for a gene that decodes for: Type 3:

p-hydroxyphenylpyruvic acid dioxygenase

• May also be seen in patients with severe liver disease (will produce tyrosine and leucine crystals)

Tyrosyluria

Tyrosyluria odor

Rancid butter odor

Screening for tyrosyluria

Nitrosonaphthanol

Tyrosyluria confirmatory test

Chromatography

Deficiency in homogentisic acid oxidase

Alkaptonuria

Increased homogentisic acid

Alkaptonuria

Produces brown pigment deposits in body tissues that can lead to arthritis, and liver and cardiac problems.

Homogentisic acid in Alkaptonuria

Screening test for alkaptonuria

Ferric chloride tube test • Benedict's test • Alklinization of fresh urine

Increased urinary melanin that produces a darkening of urine

Melanuria

Indicates malignant melanoma

Melanuria

Urine color in melanuria

Black urine

Screening for melanuria

Screening: • FeCl tube test • Sodium nitroprusside test • Ehrlich test

The branched-chain amino acids differ from other amino acids by having a______ that branches from the main aliphatic carbon chain

methyl (-CH3) group

Two major groups of branched chain aminoaciduria

Two major groups: Accumulation of one or more of the early amino acid degradation products (ex MSUD* Accumulation of organic acids produced further down in the amino acid metabolic pathway -Organic acidemias /

Clinical findings of Branched-Chain Aminoacidurias

Ketonuria

Organic acidemias

Isovaleric Acidemia Propionic Acidemia Methylmalonic Acidemia

Most common IEM in the Philippines

Maple syrup urine disease

MSUD: negative Gene that codes for the enzyme for metabolism of the ketoacids of

Leucine, isoleucine, valine

Causes severe mental retardation, convulsions, acidosis, and hypoglycemia if untreated - Death occurs during first year

MSUD

Screening for msud

Screening: • 2,4-dinitrophenylhydrazine • FeCl3 tube test

Organic acidemia general symptom

Hypoglycemia • Ketonuria; and • increased serum ammonia

Most commonly encountered disorders: organic acidemias

Isovaleric acidemia Propionic axidemia Methylmalonic acidemia

Increased urinary excretion of the metabolites indican and 5- hydroxyindoleacetic acid

Tryptophan Aminoaciduria

Usually seen in cases of argentapenoma where there is an

Tryptophan Aminoaciduria

which is a metabolite in serotonin

5-hydroxyindoleacetic acid

Increased amounts of tryptophan are converted to indole

Indicanuria

Seen in intestinal disorders

Indicanuria

blue diaper syndrome - rare inherited disorde

Hartnup disease

Indicanuria urine color

Indigo blue

Indicanuria factors

Obstruction • Presence of abnormal bacteria • Hartnup disease

Screening test for indicanuria

Obermayer’s test

Degradation product of serotonin

5-hydroxyindoleacetic acid

Serotonin is produced from tryptophan by—- in the —

Argentaffin cells in the intestine

Argentaffin cell tumors

5-hydroxyindoleacetic Acid

- A condition marked by elevated amounts of the amino acid cystine in the urine - Due to the inability of the renal tubules to reabsorb cystine filtered by the glomerulus

Cystinuria

Cystinuria defective reabsorption of what?

Cystine, ornithine, leucine, arginine

Cystinuria odor

Sulfur odor

(-) gene that codes for an enzyme responsible for cystine metabolism - Cystine deposits in many areas of the body (BM, cornea, Lymph nodes, and internal organs)

Cystinosis

Test for cystinuria and cystinosis

Brand’s modification of Legal’s nitroprusside test

Rgt of Brand’s modification of Legal’s nitroprusside test

Cyanide nitroprusside

Defect in the metabolism of the amino acid methionine

Homocystinuria

Homocystinuria is negative for that gene that codes for the enzyme

Cystathione beta synthase

Accumulation of incompletely metabolized polysaccharide portions in the lysosome

Mucopolysaccharide Disorders

mucopolysaccharides accumulate in the cornea; skeletal structure abnormality and severe mental retardation

Hurler

skeletal structure abnormality and severe mental retardation

Hunter

mental retardation only

Sanfilippo

White turbidity

Cetylmethylammonium bromide twst

massive excretion of uric acid crystals in the urine caused by the failure to inherit the gene to produce hypoxantine guanine and phosphoribosyltransferase; “orange sand” in diaper

Lesch nyhan disease