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Flashcards in Clinical Biochemistry Deck (176)
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1

Deficiency in 7-dehydrocholesterol reductase

Smith-Lemli-Opitz Syndrome

2

Deficiency in ApoE

Familial Dysbetalipoproteinemia

3

Most common inborn error of fatty acid oxidation

MCAD Deficiency (Medium-Chain Fatty Acyl CoA dehydrogenase) --> SIDS

4

Mitochondrial defect. Clinical SSx includes encaphalomyopathy with short stature, stroke-like episodes, migrainous headaches, vomiting, seizures and lactic acidoses

MELAS - Mitochondrial encapholomyopathy, Lactic Acidosis and Stroke-like episodes

5

Deficiency in Lipoprotein Lipase

Familial Hyperchylomicronemia/Buerger-Gruetz Syndrome

6

Disease using BETA-GLUCOCEREBROSIDASE as diagnostic enzyme

Gaucher Disease

7

Deficiency in 17-alpha-Hydroxylase

CAH (Dec in Cortisol/Androgen, Inc in Aldosterone)

8

Point mutation in Mitochondrial DNA (NADH dehydrogenase) resulting to loss of retinal ganglion cell which leads to late onset acute neuropathy and bilateral central vision loss

Leber Hereditary Optic Neuropathy

9

Hyperlipoproteinemia Type Ib

Familial apoprotein CII deficiency

10

Glycogen Storage Disease Type IV

Andersen Disease (type)

11

Deficiency in Lactase

Lactose Intolerance

12

Hyperlipoproteinemia Type III

Familial Dysbetalipoproteinemia (type)

13

Absence of peroxisomes in all tissues leading to marked accumulation of very-long chain, saturated, unbranched fatty acids in the liver and CNS

Zellweger Syndrome

14

Deficiency in LDL Receptor

Familial Hypercholesterolemia

15

(Organ) Deficiency in Carnitine-Palmitoyl Transferase II

Cardiac and Skeletal Muscle (Cardiomyopathy)

16

Deficiency in Aldolase A

Hemolytic Anemia

17

Glycogen Storage Disease Type I

Von Gierke Disease (type)

18

Inability to transport VLCFAs accross the peroxisomal membrane leading to accumulation in the brain, adrenals and testes

>Adrenoleukodystrophy

19

Deficiency in LDL Receptor and Overpoduction of ApoB

Combined Hyperlipidemia

20

Disease using GAMMA GLUTAMYL TRANSFERASE as diagnostic enzyme

Liver Diseases

21

Deficiency in Fructokinase

Essential Fructosuria

22

Deficiency in Muscle glycogen phosphorylase

McArdle (V) [ M for M]

23

Deficiency in Galactokinase

Galactokinase Deficiency

24

Disease using AMYLASE as diagnostic enzyme

Acute Pancreatitis

25

Deficiency of phytanol-CoA hydroxylase

Refsum Disease

26

VLDL overproduction and decreased elimination

Familial Hypertriacylglycerolemia

27

Deficiency in Essential Fatty Acids

Ichthyosis, Hair Loss, Pour wound healing

28

Glycogen Storage Disease Type VI

Hers Disease (type)

29

Glycogen Storage Disease Type II

Pompei Disease (type)

30

Results from inhalation anesthetics triggering a reaction in susceptible people, with marked rise in temperature and respiratory acidosis

Malignant Hyperthermia