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SFM - Biochem - Quiz 1 > Metabolic diseases > Flashcards

Metabolic diseases Flashcards

1
Q

What is albinism?

What enzyme is responsible?

What are the main clinical manifestations?

Panini pg. 268

A

Lack of melanin (tyrosine derivative) resulting in lack of pigmentation

Enzyme: tyrosinase

Clincial presentation: abnormal pigmentaiton of skin, hair, and eyes

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2
Q

What is CPS I deficiency?

What enzyme is responsible?

What are the main clinical manifestations?

Panini pg. 270

A

Impaired clearance of nitrogen via urea cycle

Enzyme: Carbamoyl phosphate synthetase I (ammonium + bicarbonate ► carbamoyl phosphate) (mitochondrial protein)

Clinical manifestation: hyperammonemia, poor respirtory and temprature regualtion, lethargy, seizures, developmental delay, MR

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3
Q

What is cystic fibrosis?

What protein is responsible?

What are the main clinical manifestations?

Panini pg. 95

A

Thickened mucous (primarily in airways) due to inefficecnt pumping of Cl- out of epithelium

Protein: CFTR (cystic fibrosis transmembrane conductance regulator) (primary active Cl- transporter)

Clinical manifestation: difficulty breathing

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4
Q

What is cystinuria?

What protein is responsible?

What are the main clinical manifestations?

Panini pg. 93

A

Accumulation of dimeric cystine resulting in deposits in kidneys

Protein: dimeric cystine transporter

Clinical manifestation: renal colic

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5
Q

What is Fanconi-Bickel syndrome?

What protein is responsible?

What are the main clinical manifestations?

Panini pg. 117

A

Inability of glucose, galactose, and fructose to cross cell membrane of certain cell types (liver, pancreatic β cell, and proximal renal tubule).

Protein: GLUT 2 (glucose, galactose, and fructose transporter)

Clinical manifestation: hepatomegly, tubular nephropathy, decreased insulin secretion (failure of β cells to detect glucose)

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6
Q

What is classical galactosemia?

What enzyme is responsible?

What are the main clinical manifestations?

Panini pg. 189-190

A

Accumulation of galactitol to to inability to convert galactose to glucose

Enyzme: GALT (galactose 1-P ► glucose 1-P)

Clinical manifestation: liver failure, failure to thrive, sepsis, cataracts

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7
Q

What is nonclassical galactosemia?

What enzyme is responsible?

What are the main clinical manifestations?

Panini pg. 189-190

A

Accumulation of galactitol to to inability to convert galactose to glucose

Enzyme: galactokinase (galactose ► galactose 1-P)

Clinical manifestation: cataracts

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8
Q

What is GSD 0?

What enzyme is responsible for the deficiency?

What is the nature of glycogen with the disorder?

What are the symptoms?

A

Name: GSD 0

Enzyme: Glycogen synthase

Glycogen: unable to synthesize

Symptoms: fasting hypoglycemia, muscle cramping

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9
Q

What is GSD I?

What enzyme is responsible for the deficiency?

What is the nature of glycogen with the disorder?

What are the symptoms?

Panini pg. 177-178;180

A

Name: Von Gierke

Enzyme: Glucose 6-phosphatase

Glycogen: Increased amount, unable to release glucose from the liver, normal structure

Symptoms: fasting hypoglycemia, lactic acidosis, hepatomegaly

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10
Q

What is GSD II?

What enzyme is responsible for the deficiency?

What is the nature of glycogen with the disorder?

What are the symptoms?

Panini pg. 178;180;184

A

Name: Pompe

Enzyme: Acid maltase (lysosomal)

Glycogen: Massive increased amount, normal structure

Symptoms: muscle weakness (skeletal and cardiac)

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11
Q

What is GSD III?

What enzyme is responsible for the deficiency?

What is the nature of glycogen with the disorder?

What are the symptoms?

Panini pg. 178;180;185

A

Name: Cori

Enzyme: α-1,6-glucosidase (debranching enzyme)

Glycogen: large number of short branches, increased amount

Symptoms: hepatomegaly

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12
Q

What is GSD IV?

What enzyme is responsible for the deficiency?

What is the nature of glycogen with the disorder?

What are the symptoms?

Panini pg. 178;180

A

Name: Andersen

Enzyme: glucosyl (4:6) transferase (branching enzyme)

Glycogen: long chains with few branches, normal amount

Symptoms: hepatospelnomegaly, cirrhosis

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13
Q

What is GSD V?

What enzyme is responsible for the deficiency?

What is the nature of glycogen with the disorder?

What are the symptoms?

Panini pg. 178;180;185

A

Name: McArdle

Enzyme: muscle glycogen phosphorylase

Glycogen: increased amount, normal structure

Symptoms: weakness, fatigue, cramping, excercise intolerance

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14
Q

What is GSD VI?

What enzyme is responsible for the deficiency?

What is the nature of glycogen with the disorder?

What are the symptoms?

Panini pg. 178;180;184

A

Name: Hers

Enzyme: liver glycogen phosphorylase

Glycogen: increased amount, normal structure

Symptoms: hepatomegly, hypoglycemia

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15
Q

What is gout?

What enzyme is responsible?

What are the main clinical manifestations?

What medication is used to treat gout?

Panini pg. 278

A

Excessive production of uric acid leading to painful deposits

Enzyme: Xanthine oxidase (hypoxanthine (AMP) ► xanthine (A/GMP) ► uric acid)

Clinical manifestation: gouty arthritis (primarily in feet), kidney damage

Treatment: Allopurinol

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16
Q

What is Hartnup disease?

What protein is responsible?

What are the main clinical manifestations?

Panini pg. 93;255

A

Inadequate tryptophan (precursor for vitamin B3/naicin)

Protein: nonpolar AA transporter

Clinical manifestation: photosenstivie dermatitis, failure to thrive, ataxia, nystagmus

Also known as Pellagra-like dermatitis

17
Q

What is lactose intolerance?

What enzyme is responsible?

What are the main clinical manifestations?

Panini pg. 190

A

Inability to metabolize intestinal lactose which results in increased osmotic load in lumen.

Enzyme: Lactase (lactose ► galactose)

Clincial manifestation: diarrhea and excess flatulence

18
Q

What is Lesch-Nyhan syndrome?

What enzyme is responsible?

What are the main clinical manifestations?

Panini pg. 284

A

Excess guanine and hypoxanthine due to defective purine salvage pathway which are degraded to uric acid instead of being used to regnerate GMP and IMP. Also excessive purine synthesis due to overabundance of PRPP.

Enzyme: HGPRT (hypoxanthine-guanine phosphoribosyltransferase) (guanine/hypoxanthine ► GMP/IMP)

Clinical presentation: self-mutilation, MR, neuromuscular dysfunction, gout-like symptoms

19
Q

What is maple syrup urine disease (MSUD)?

What enzyme is responsible?

What are the main clinical manifestations?

Panini pg. 267

A

Inability to break down branched-chain AAs (valine, leucine, and isoleucine) resulting in build up in urine.

Enzyme: BCKD (branched-chain α-keto acid dehydrogenase complex)

Clinical manifestation: urine that smells like maple syrup, MR

20
Q

What is MCAD deficiency?

What enzyme is responsible?

What are the main clinical manifestations?

Panini pg. 217

A

Inability to break down medium-chain fatty acids

Enzyme: medium-chain acyl CoA dehydrogenase (MCFA ► acetyl CoA)

Clinical manifestation: hypoglycemia (sometimes fatally)

21
Q

What is Neimann-Pick disease?

What enzyme is responsible?

What are the main clinical manifestations?

Panini pg. 90

A

Accumulation of sphingomyelin in lysosomes of liver, spleen, CNS, and bone marrow.

Enzyme: A-SMase (acid sphingomyelinase) (sphingomyelin ► ceramide + phosphorycholine)

Clinical manifestation: “cherry red spot” in eye, hepatosplenomegaly, MR, ataxia, seizures

22
Q

What is PDCD?

What enzyme is responsible?

What are the main clinical manifestations?

Panini pg. 129

A

Inadequate conversion of pyruvate to acetyl CoA. Pyruvate is instead shunted to make lactate.

Enzyme: pyruvate dehydrogenate complex (pyruvate ► acetyl CoA)

Clinical manifestation: lactic acidosis (metabolilc); mircocephaly, lethargy, hypotonia (neurologic)

23
Q

What is phenylketonuria (PKU)?

What enzyme is responsible?

What are the main clinical manifestations?

Panini pg. 268

A

Inability to metabolize phenylalanine resulting in accumulation of phenyllactate and phenylacetate. These compounds inhibit AA transport in the brain and inhibit myelin formation.

Enzyme: PAH (phenylalanine hydrozylase) (phenylalanine ► tyrosine)

Clinical manifestation: musty smelling urine; if untreated, microcephaly, learning disorders, seizures

**NOTE**: pathopysiology does not start until after birth as mother metabolizes phenylalanine; if treated adequately, minimal symptoms are possible

24
Q

What is severe combined immunodeficiency?

What enzyme is responsible?

What are the main clinical manifestations?

Panini pg. 278

A

Excessive of AMP resulting in inhibition of synthesis of other nucleotides. This affects lymphocytes the most, disrupting T cell and B cell maturation resulting in minimal adaptive immune system function.

Enzyme: adenosine deaminase (ADA) (adenosine ► inosine)

Clinical manifestation: “bubble boys” (inability to tolerate exposure to enviornment due to extreme risk of fatal infection)

X-linked

25
Q

What is Tarui disease?

What enzyme is responsible?

What are the main clinical manifestations?

Panini pg. 171

A

Inefficient glycolysis (rate-limiting step is affected)

Enzyme: phosphofructokinase-1 (PFK-1)

Clinical manifestation: excercise induced weakness and cramps, hemolytic anemia, hyperbilirubinemia/jaundice

SFM - Biochem - Quiz 1 (16 decks)

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