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Adams 10th > Chapter 37 - Inherited metabolic diseases > Flashcards

Chapter 37 - Inherited metabolic diseases Flashcards

1
Q 
Usually cause manifest disease in heterozygotes
A. Autosomal dominant diseases
B. Autosomal recessive diseases
C. X-linked diseases
D. Mitochondrial diseases
A

A. Autosomal dominant diseases (p. 947)

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2
Q 
Variable degrees of penetrance and expressivity
A. Autosomal dominant diseases
B. Autosomal recessive diseases
C. X-linked diseases
D. Mitochondrial diseases
A

A. Autosomal dominant diseases (p. 947)

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3
Q 
First appear long after birth
A. Autosomal dominant diseases
B. Autosomal recessive diseases
C. X-linked diseases
D. Mitochondrial diseases
A

A. Autosomal dominant diseases (p. 947)

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4
Q 
Occur only in the homozygous state
A. Autosomal dominant diseases
B. Autosomal recessive diseases
C. X-linked diseases
D. Mitochondrial diseases
A

B. Autosomal recessive diseases (p. 947)

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5
Q 
Onset is soon after birth
A. Autosomal dominant diseases
B. Autosomal recessive diseases
C. X-linked diseases
D. Mitochondrial diseases
A

B. Autosomal recessive diseases (p. 947)

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6
Q 
The essential feature is maternal inheritance
A. Autosomal dominant diseases
B. Autosomal recessive diseases
C. X-linked diseases
D. Mitochondrial diseases
A

D. Mitochondrial diseases (p. 947)

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7
Q 
The basic abnormality is more often an enzyme deficiency*
A. Autosomal dominant diseases
B. Autosomal recessive diseases
C. X-linked diseases
D. Mitochondrial diseases
A

B. Autosomal recessive diseases (p. 947)

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8
Q 
The abnormality has more often been one of a basic protein
A. Autosomal dominant diseases
B. Autosomal recessive diseases
C. X-linked diseases
D. Mitochondrial diseases
A

C. X-linked diseases (p. 947)

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9
Q

Which of the following is NOT true of neonatal metabolic disease?
A. Pregnancy and delivery usually proceed without mishap
B. Affected babies are usually born preterm
C. The infant is of a size and weight appropriate for the duration of pregnancy
D. Function continues to be normal in the first few days of life
E. The first definite indication of disordered nervous system function is likely to be seizures

A

B. Affected babies are usually born preterm (p. 949)

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10
Q 
Ferric chloride test: green
Nitroprusside reaction: negative
A. Phenylketonuria
B. MSUD
C. Tyrosinemia
D. Propionic acidemia
E. Homocystinuria
F. Galactosemia
G. Histidinemia
A

A. Phenylketonuria (Table 37-2, p. 950)

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11
Q 
Ferric chloride test: navy blue*
A. Phenylketonuria
B. MSUD
C. Tyrosinemia
D. Propionic acidemia
E. Homocystinuria
F. Galactosemia
G. Histidinemia
A

B. MSUD (Table 37-2, p. 950)

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12
Q 
Ferric chloride test: pale green (transient)
Nitroprusside reaction: positive
A. Phenylketonuria
B. MSUD
C. Tyrosinemia
D. Propionic acidemia
E. Homocystinuria
F. Galactosemia
G. Histidinemia
A

C. Tyrosinemia (Table 37-2, p. 950)

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13
Q 
Ferric chloride test: green-brown
A. Phenylketonuria
B. MSUD
C. Tyrosinemia
D. Propionic acidemia
E. Homocystinuria
F. Galactosemia
G. Histidinemia
A

G. Histidinemia (Table 37-2, p. 950)

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14
Q 
Ferric chloride test: purple
A. Phenylketonuria
B. MSUD
C. Tyrosinemia
D. Propionic acidemia
E. Homocystinuria
F. Galactosemia
G. Histidinemia
A

D. Proprionic acidemia (Table 37-2, p. 950)

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15
Q 
Ferric chloride test: negative
Nitroprusside reaction: positive
A. Phenylketonuria
B. MSUD
C. Tyrosinemia
D. Propionic acidemia
E. Homocystinuria
F. Galactosemia
G. Histidinemia
A

E. Homocystinuria (Table 37-2, p. 950)

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16
Q 
Benedict reaction: positive
Ferric chloride test: green-brown
A. Phenylketonuria
B. MSUD
C. Tyrosinemia
D. Propionic acidemia
E. Homocystinuria
F. Galactosemia
G. Histidinemia
A

F. Galactosemia (Table 37-2, p. 950)

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17
Q 
The specific laboratory abnormality is an increased excretion of xanthurenic acid in response to a tryptophan load
A. Pyridoxine-dependent seizures
B. Biopterin deficiency
C. Galactosemia
D. Organic aciduria
A

A. Pyridoxine-dependent seizures (p. 951)

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18
Q 
Co-factor of phenylalanine hydroxylase
A. Tetrahydrobiopterin
B. Folate
C. Cobalamin
D. Zinc
A

A. Tetrahydrobiopterin (p. 951)

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19
Q 
Marked restriction of this dietary amino acid may prevent attacks of ketoacidosis and permit relatively good psychomotor development in propionic acidemia
A. Glycine
B. Taurine
C. Leucine
D. Tyrosine
A

C. Leucine (p. 952)

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20
Q 
Sweaty foot syndrome
A. Propionic acidemia
B. Methylmalonic acidemia
C. Isovaleric acidemia
D. Beta-keto acidemia
E. Lactic acidemia
A

C. Isovaleric acidemia (p. 952)

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21
Q

The following inherited hyperammonemias have autosomal recessive inheritance EXCEPT for
A. N-acetyl glutamate synthetase deficiency
B. Carbamoyl phosphate synthetase deficiency
C. Ornithine transcarbamylase deficiency
D. Argininosuccinic acid synthetase deficiency
E. Argininosuccinase deficiency
F. Arginase deficiency

A

C. Ornithine transcarbamylase deficiency (p. 952)

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22
Q

The clinical manifestations of the following inherited hyperammonemias are a common expression of ammonia accumulation in the brain EXCEPT for this disease, which commonly presents as a progressive spastic paraplegia with MR
A. N-acetyl glutamate synthetase deficiency
B. Carbamoyl phosphate synthetase deficiency
C. Ornithine transcarbamylase deficiency
D. Argininosuccinic acid synthetase deficiency
E. Argininosuccinase deficiency
F. Arginase deficiency

A

F. Arginase deficiency (p. 952)

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23
Q 
What is the enzyme deficient in maple syrup urine disease?
A. Ornithine transcarbamylase
B. Arginosuccinase
C. Arginase
D. Alpha ketoacid dehydrogenase
A

D. Alpha ketoacid dehydrogenase (p. 953)

24
Q 
Hallmark of all the hereditary metabolic diseases
A. Failure to thrive
B. Seizures
C. Stupor
D. Psychosensorimotor regression
A

D. Psychosensorimotor regression (p. 955)

25
Q 
Beta hexosaminidase A deficiency
A. GM1 gangliosidosis
B. Tay-Sachs disease
C. Krabbe disease
D. Fabry disease
E. Gaucher disease
A

B. Tay-Sachs disease (Table 37-3, p. 956)

26
Q 
Galactocerebrosidase deficiency*
A. GM1 gangliosidosis
B. Tay-Sachs disease
C. Krabbe disease
D. Fabry disease
A

C. Krabbe disease (Table 37-3, p. 956)

27
Q 
Glucocerebrosidase deficiency
A. Krabbe disease
B. Fabry disease
C. Gaucher disease
D. Niemann-Pick disese
A

C. Gaucher disease (Table 37-3, p. 956)

28
Q 
Sphingomyelinase deficiency
A. Krabbe disease
B. Fabry disease
C. Gaucher disease
D. Niemann-Pick Type A
E. Niemann-Pick Type C
A

D. Niemann-Pick Type A (Table 37-3, p. 956)

29
Q 
Beta galactosidase deficiency
A. GM1 gangliosidosis
B. GM2 gangliosidosis
C. Metachromatic leukodystrophy
D. Krabbe disease
E. Fabry disease
A

A. GM1 gangliosidosis (Table 37-3, p. 956)

30
Q 
Ceramidase deficiency
A. Krabbe disease
B. Gaucher disease
C. Niemann Pick disease Type A
D. Niemann Pick disease Type C
E. Farber disease
A

E. Farber disease (Table 37-3, p. 956)

31
Q 
Aminoacylase II deficiency with attenuation of cerebral and cerebellar white matter in an enlarged brain with normal-sized ventricles on CT
A. Pelizaeus-Merzbacher disease
B. Canavan disease
C. Alexander disease
D. Alpers disease
A

B. Canavan disease (p. 961)

32
Q 
Mutation in GFAP with Rosenthal fibers seen pathologically
A. Pelizaeus-Merzbacher disease
B. Canavan disease
C. Alexander disease
D. Alpers disease
A

C. Alexander disease (p. 962)

33
Q 
"Walnut brain"
A. Pelizaeus-Merzbacher disease
B. Canavan disease
C. Alexander disease
D. Alpers disease
A

D. Alpers disease (p. 962)

34
Q 
Peroxisomal disorder with characteristic stippled, irregular calcifications of the patellae and greater trochanters
A. Zellweger disease
B. Lowe syndrome
C. Menkes disease
D. Alpers disease
A

A. Zellweger disease (p. 963)

35
Q 
The characteristic biochemical abnormality is a renal tubular acidosis and death is usually from renal failure. The primary genetic defects are in the gene encoding inositol polyphosphate phosphatase of the Golgi complex.
A. Zellweger disease
B. Lowe syndrome
C. Menkes disease
D. Alpers disease
A

B. Lowe syndrome (p. 963)

36
Q 
Mutation in ATP7A leading to failure of Cu absorption from the GIT
A. Zellweger disease
B. Lowe syndrome
C. Menkes disease
D. Alpers disease
A

C. Menkes disease (p. 963-964)

37
Q 
Acousticomotor obligatory startle
A. Tay Sachs disease
B. Krabbe leukodystrophy
C. Leigh disease
D. Metachromatic leukodystrophy
A

A. Tay Sachs disease (p. 964)

38
Q 
Classic triad of trismus, strabismus, and opisthotonus
A. Krabbe disease
B. Alpers disease
C. Infantile Gaucher disease
D. Leigh disease
A

C. Infantile Gaucher disease (p. 964)

39
Q 
Most frequent of the aminoacidurias
A. PKU
B. Tyrosinemia
C. Hartnup disease
D. MSUD
A

A. PKU (p. 968)

40
Q 
Arylsulfatase A deficiency with characteristic grayish discoloration around the maculae
A. PKU
B. Tyrosinemia
C. Metachromatic leukodystrophy
D. Neuroaxonal dystrophy
A

C. Metachromatic leukodystrophy (p. 972)

41
Q 
Mucopolysaccharidosis type 1*
A. Hurler
B. Hunter
C. Von Gierke
D. Morquio
E. Sanfilippo
A

A. Hurler (p. 974, Table 37-7)

42
Q 
All forms of mucopolysaccharidoses are autosomal recessive except this type, which is X-linked
A. MPS I (Hurler)
B. MPS II (Hunter)
C. MPS III (Sanfilippo)
D. MPS IV (Morquio)
E. MPS VI (Maroteaux-Lamy)
F. MPS VII (Sly)
A

B. MPS II (Hunter) (p. 974)

43
Q 
Most common of the mucolipidoses
A. Lipomucopolysaccharidosis
B. I-cell disease
C. Pseudo-Hurler polydystrophy
D. Mucolipidosis IV
A

B. I-cell disease (p. 975)

44
Q

Familial progressive myoclonus characterized by curvilinear “fingerprint” pattern on EM, particularly of eccrine sweat glands of the skin
A. Lafora body polymyoclonus with epilepsy
B. Juvenile ceroid lipofuscinosis/cerebroretinal degeneration/Batten disease
C. Kufs Disease
D. GM2 gangliosidosis

A

B. Juvenile ceroid lipofuscinosis/cerebroretinal degeneration/Batten disease (p. 981)

45
Q

NOT true of Wilson’s disease*
A. Low ceruloplasmin
B. Kayser-Fleischer ring is the one pathognomonic sign of the disease
C. BAL administration leads to recession of symptoms
D. All of the above are true

A

D. All of the above are true (p. 982)

46
Q 
"Eye of the tiger sign" on T2 MRI
A. Wilson Disease
B. PKAN
C. Lesch-Nyhan syndrome
D. Adrenoleukodystrophy
A

B. PKAN (pp. 985-986)

47
Q 
Deficiency of hypoxanthine-guanine-phosphoribosyl transferase and is characterized by choreoathetosis with self-mutilation and hyperuricemia
A. Wilson disease
B. PKAN
C. Lesch-Nyhan syndrome
D. Adrenoleukodystrophy
A

C. Lesch-Nyhan syndrome (p. 986)

48
Q 
Idiopathic form of calcification of the basal ganglia and cerebellum in which choreoathetosis and rigidity are prominent acquired features*
A. Wilson disease
B. Hallervorden-Spatz disease
C. Lesch-Nyhan syndrome
D. Fahr disease
A

D. Fahr disease (p. 987)

49
Q 
The fundamental defect in this disease is impairment in peroxisomal oxidation of very long chain fatty acids*
A. Adrenoleukodystrophy
B. Cerebrotendinous xanthomatosis
C. Metachromatic leukodystrophy
D. Orthochromatic leukodystrophy
A

A. Adrenoleukodystrophy (p. 988)

50
Q 
No enzyme defect or special staining characteristic of degenerated white matter
A. Adrenoleukodystrophy
B. Cerebrotendinous xanthomatosis
C. Metachromatic leukodystrophy
D. Orthochromatic leukodystrophy
A

D. Orthochromatic leukodystrophy (p. 990)

51
Q 
The basic defect is in the synthesis of primary bile acids, leading to an increased hepatic production of cholesterol and cholestanol, which accumulate in brain and tendons
A. Adrenoleukodystrophy
B. Cerebrotendinous xanthomatosis
C. Metachromatic leukodystrophy
D. Orthochromatic leukodystrophy
A

B. Cerebrotendinous xanthomatosis (p. 990)

52
Q 
Which of the following mitochondrial disorders do not present with lactic acidosis?*
A. MELAS
B. Leigh syndrome
C. Kearns-Sayre disease
D. MERRF
A

C. Kearns-Sayre disease (Table 37-9, p. 995)

53
Q

Which of the following is NOT a mitochondrial disorder?*
A. MELAS
B. Progressive external ophthalmoplegia
C. Rett syndrome
D. Myoclonic epilepsy and ragged red fibers

A

C. Rett syndrome (Table 37-9, p. 995)

54
Q

Which of the following is true regarding treatment for adrenoleukodystrophy?*
A. Adrenal replacement therapy prolongs life and occasionally effects a partial neurologic remission
B. Diet rich in MUFAs has been said to slow the progress of the disease
C. Bone marrow transplantation has been shown to stabilize the disease and reverse some MRI changes
D. All of the above

A

D. All of the above (p. 990)

55
Q 
Strokes in MELAS usually occurs in this age group*
A. Infants and early childhood
B. Late childhood
C. Adolescence and young adulthood
D. Elderly
A

C. Adolescence and young adulthood (p. 991)

56
Q 
Example of mitochondrial disease*
A. Ragged red fiber polymyopathy
B. Kufs disease
C. Wilson disease
D. Niemann-Pick disease type C
E. Krabbe disease
A

A. Ragged red fiber polymyopathy (Table 37-9 p. 995)

Adams 10th (27 decks)

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