METABOLITES FOR ENBS Flashcards by Cait Lyn | Brainscape

Q

Congenital Hypothyroidism

A

Thyroid stimulating hormone TSH

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Q

Congenital Adrenal Hyperplasia

A

17-hydroxy-progesterone

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Q

Homocystinuria

A

methionine

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Q

Hypermethioninemia

A

methionine

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Q

Maple Syrup Urine Disease

A

leucine

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Q

Phenylketonuria

A

Phenylalanine

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Q

Tyrosinemia Type 1,2,3

A

Succinylacetone
Tyrosine

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Q

CPT1

A

Hexadecanoylcarnitine + CPT ratio

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Q

CPT 2

A

Hexadecanoylcarnitine + CPT ratio

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Q

Carnitine Uptake Deficiency

A

Free Carnitine

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Q

Glutaric Acidemia Type 2

A

Butyrylcarnitine + Isovalerylcarnitin

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Q

LCHAD

A

3 Hydroxyhexadecanoylcarnitine

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Q

MCAD

A

Octanoylcarnitine

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Q

VLCAD

A

Tetradecanoylcarnitine

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Q

Tri functional protein deficiency

A

Hydroxyhexadecanoylcarnitine

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Q

3 MCC

A

3 Hydroxyisovalerylcarnitine

Q

Beta keto thiolase deficiency

A

Hydroxyisovalerylcarnitine

Q

Glutaric Acidemia type 1

A

Glutarylcarnitine

Q

Isovaleric acidemia

A

Isovalerylcarnitine

Q

Methylmalonic acidemia

A

Propionylcarnitine

Q

Multiple Carboxylase Deficiency

A

3- Hydroxyisovalerylcarnitine + Pronionylcarnitine

Q

Propionic Acidemia

A

Propionylcarnitine

Q

Citrullinemia

A

Citrulline

Q

Argininosuccinic Aciduria

A

Citrulline

Q

Thalassemias, HgB C D E, Sickle Cell

A

Hemoglobin

Q

Galactosemia

A

Total Galactose

Q

Glucose 6 phosphate dehydrogenase deficiency

A

G6PD enzyme activity

Q

Cystic Fibrosis

A

Immunoreactive trypsin

Q

Biotinidase deficiency

A

Biotinidase enzyme activity