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Neo Boards > Metabolic Disorders > Flashcards

Metabolic Disorders Flashcards

1
Q

The incidence of metabolic disorders is ________

A

1:2000

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2
Q

When do most metabolic disorders present?

A

48h

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3
Q

Family history concerning for M.D.:

A

Undiagnosed neonatal death
Neurologic deterioration
Multiple miscarriages
Consanguinity

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4
Q

Clinical signs of M.D.:

A 
Poor feeding/vomiting
Lethargy, seizures, poor tone
Cardiomegaly
Hepatosplenomegaly
Dysmorphic features
Cataracts
Developmental delay, FTT
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5
Q

Infants with a progressive asymptomatic-> ill course likely have a ____ M.D.

A

Intoxication, build up of metabolic byproducts

  • Organic acidemia
  • Urea cycle defect
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6
Q

Infants who present immediately after birth with a profoundly abnormal neuro exam most likely have a M.D. marked by ______

A

Energy deficiencies

  • Mitochondrial disorder
  • Nonketotic hyperglycinemia
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7
Q

Lab workup for M.D should include

A 
Glucose
Electrolytes
ABG
LFT's
Bilirubin
UA
Ammonia
Urine reducing substances
Urine organic acids/Serum amino acids
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8
Q

Absence of ______________ causes galactosemia

A

Galactose-1-phosphate-uridyltransferase

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9
Q

Absence of __________ causes galactokinase deficiency.

Patients have ________

A

Galactokinase

Cataracts

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10
Q

Galactosemia is _________ inheritance pattern

A

autosomal recessive

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11
Q

Galactosemia presents

A 
after feedings introduced
poor feeding, vomiting
lethargy
jaundice
hepatomegaly
liver failure
renal tubular dysfunction
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12
Q

The metabolic disorder associated with recurrent E coli infection is

A

Galactosemia

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13
Q

Labs in galactosemia are

A

Elevated LFT’s
Galactosuria (reducing substances)
Hyperchloremic metabolic acidosis

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14
Q

Findings of cataracts with increased glucose, increased urine reducing substances, and low blood galactokinase activity suggest

A

Galactokinase deficiency

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15
Q

Glycogen storage diseases found in infants include

A

Von Gierke, type 1

Pompe, type 2

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16
Q

Glycogen storage diseases affect the metabolism from

A

UDP (urine-diphospho-glucose)
To
Glycogen+ glucose

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17
Q

Type 1 /von Gierke glycogen storage disease is a defect in

A

Glucose 6 phosphatase

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18
Q

Von Gierke, type 1 glycogen storage disease causes

A

Lactic acidosis, low glucose due to inability to convert glucose 6 phosphate to glycogen / glucose

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19
Q

Type 2, Pompe disease is a defect in

A

Lysosomal alpha glucosidase

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20
Q

Type 2 glycogen storage disease, Pompe, causes

A

Cardiomegaly
CHF
No affect on glucose or anaerobic function

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21
Q

Glycogen storage disease should be managed with

A 
Support euglycemia, avoid glycogenolysis
Liver transplant (residually type 4)
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22
Q

Fructosemia is inherited ______ and caused by ________

A

Autosomal recessive

Defect in fructokinase or fructose-1-phosphate aldolase

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23
Q

Intake of ____, _____ , or _____ can cause clinical fructosemia

A

Sucrose
Fructose
Sorbitol

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24
Q

Labs in fructosemia are

A

Hypoglycemia (blocked glycogenolysis)
Absent fructose 1 phosphate aldolase
Abnormal LFT’s

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25
Q

Defect enzymes in fructosemia block metabolism of ____ to ______

A 
Fructose
To
Fructose 1 phosphate
To
Glyceraldehyde+ dihydroxyacetone
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26
Q

Deficiency of ________ causes low orotic acid

A

N acetylglutamate synthetase

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27
Q

Deficiency of _______ causes congenital hyperammonemia type 1.

A

Carbamyl phosphate synthetase

Autosomal recessive

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28
Q

Deficiency of _______ causes congenital hyperammonemia type 2

A

ornithine carbamyl transferase

X lined recessive
Extremely elevated urine orotic acid

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29
Q

Deficiency of ________ causes citrullinemia

A

Arginosuccinic acid synthetase

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30
Q

Deficiency of _______ causes arginosuccinic aciduria

A

Arginosuccinic aciduria

Autosomal recessive

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31
Q

Arginosuccinic aciduria is inherited

A

Autosomal recessive

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32
Q

Deficiency of _______ causes argininemia

A

Arginase

Autosomal recessive

Spastic diplegia, orotic aciduria

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33
Q

Severe hyperammonemia and respiratory alkalosis suggests

A

Urea cycle defects

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34
Q

Elevated glutamine and alanine are found in

A

N acetylglutamate synthetase deficiency

Carbamyl phosphate synthetase deficiency

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35
Q

________ deficiency has elevated glutamine, alanine, orotic acid, citrulline, and arginine

A

Arginase

Argininemia

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36
Q

_______ and _______ have elevated ____, ____, and _____ but low _______

A

Glutamine
Alanine
Citrulline

Arginine

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37
Q

_______ and _______ have elevated ____, ____, and _____ but low _______

A

Arginosuccinic lyase
Arginosuccinic acid synthetase

Glutamine
Alanine
Citrulline

Arginine

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38
Q

Citrulline supplementation should be given to patients with

A

Carbamyl phosphate synthetase
Ornithine carbamyl transferase
N acetylglutamate synthetase

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39
Q

Increased leucine, valine and isoleucine indicate

A

Maple syrup urine disease

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40
Q

MSUD is inherited

A

Autosomal recessive

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41
Q

MSUD is caused by

A

Thiamine deficiency for ketoacid dehydrogenases

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42
Q

Cognitive outcomes of MSUD are based on

A

Plasma leucine levels

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43
Q

Phenylketonuria is inherited _____ and due to _____

A

Autosomal recessive

Phenylalanine hydroxylase deficiency

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44
Q

Labs in phenylketonuria are

A

Elevated phenylalanine

Decreased tyrosine

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45
Q

A defect in _____ can mimic classic PKU

A

Tetrahydrobiopterin

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46
Q

Classic PKU is diagnosed by

A

Newborn screen ^ phenylalanine

Phenylpyruvic acid in urine

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47
Q

Pterin defect PKU is diagnosed by

A

Dihydrobiopterin reductase in RBC’s

48
Q

Elevated phenylalanine with elevated tyrosine is

A

Transient tyrosinemia

49
Q

Fumarylacetoacetate hydrolase deficiency causes

A

Tyrosinemia

50
Q

Blood and urine succinylacetone indicates

A

Maple syrup urine disease

51
Q

Severe liver disease with albinism and fanconi syndrome is

A

Maple syrup urine disease

52
Q

Labs in MSUD are

A

Increased tyrosine, urinary fumarylacetoacetate, methionine

Normal phenylalanine

53
Q

MSUD is treated with

A

Nitisinone

54
Q

Homocystinuria can be caused by either

A

Defect in betaine-methyltransferase/methyltetrahydrofolate-homocysteine methyltransferase —> low methionine

OR
cystathionine synthetase deficiency

55
Q

The most common cause of homocysteinuria is _____ and can mimic _____

A

Cystathionine synthetase deficiency

Marfan’s (except with joint decreased movement)

56
Q

Labs in homocysteinuria are

A

Elevated methionine
Elevated homocysteinuria

+Nitroprusside test

Decreased cystathionine synthetase levels in skin

57
Q

Homocystinuria is treated with

A

High pyridoxine supplement

Limit methionine, increase cysteine/folate in diet

58
Q

A defect in the glycine cleavage pathway causes

A

Nonketotic hyperglycinemia

Defective conversion of glycine to ammonia

59
Q

Nonketotic hyperglycinemia is inherited _____ and prognosis is ______

A

Autosomal recessive

Very poor, high risk of death in first few weeks

60
Q

A metabolic disorder associated with agenesis of the corpus collosum is

A

Nonketotic hyperglycinemia

61
Q

Labs in nonketotic hyperglycinemia are

A

Elevated glycine

No ketoacidosis

62
Q

Nonketotic hyperglycinemia is treated with

A

Sodium benzoate
Diazepam sectionalism
Dextromethorphan

63
Q

Histidine deficiency causes

A

Histidinemia

Autosomal recessive

Benign-> mild delays

Blue green urine when combined with ferric chloride

64
Q

Cystinuria is

A

Autosomal recessive

Amino acid transport defect–> cysteine deficiency

Urolithiasis, nitroprusside shows cysteine in urine

Rx: methionine restriction, urine alkalinization, d-penicillamine

65
Q

Lysine, arginine, ornithine deficiency due to amino acid transport defect is

A

Lysinuric protein intolerance

66
Q

Lysinuric protein intolerance presents when

A

Infants diet begins to include protein

67
Q

Labs in lysinuric protein intolerance are:

Treated with:

A

Hyperammonemia
High lysine in urine/low lysine in plasma

Rx: citrulline, glucose energy, sodium benzoate, sodium phenylacetate

68
Q

Decreased tryptophan due to defective amino acid transport is

A

Hartnup disease

69
Q

The cause of ‘blue diaper syndrome’ is

A

Blue colored urine due to abnormal intestinal tryptophan transport

70
Q

Deficient isovaleryl-CoA dehydrogenase causes

A

isovaleric acidemia

71
Q

Isovaleric acidemia causes

A

Buildup of leucine, urine isovalerylglycine and isovaleric acid

72
Q

Diagnosis of isovaleric acidemia

A

Decreased isovaleryl-CoA dehydrogenase activity in skin

Sweaty feet odor

73
Q

Defective function of isovaleryl-CoA dehydrogenase due to biotin deficiency causes

A

3-methylcrotonyl glycinuria

74
Q

Both isovaleric acidemia and 3-methycrotonyl glycinuria can be treated with

A

Glycine
Carnitine

3-methylcrotonyl glycinuria: biotin

75
Q

Propionic acidemia is caused by

A

Autosomal recessive deficiency of propionyl -CoA carboxylase

76
Q

Methylmalonyl-CoA isomerase deficiency causes

A

Methylmalonic acidemia

77
Q

Both ketotic hyperglycinemia, propionic acidemia and methylmalonic acidemia, have required cofactors _____ and ______ for enzymes to function.

A

Biotin : propionyl -CoA carboxylase

Cobalamin : Methylmalonyl-CoA isomerase

78
Q

Labs in both ketotic hyperglycinemia are

A 
Ketoacidosis
Hyperglycinemia
Hypoglycemia
Hyperammonemia
Elevated blood and urine acylcarnitines
79
Q

Treat both ketotic hyperglycinemias (propionic acidemia and methylmalonic acidemia) with

A

Cofactor replacement
Limit amino acid methionine, threonine, valine, leucine
Antibiotics to reduce intestinal flora
Carnitine

80
Q

Defective mevalonate kinase causes

A

Mevalonic aciduria–>

Dysmorphic features
Cataracts

Increased creatine kinase, LFT’s, mevalonic acid

81
Q

Mevalonic aciduria can be treated with

A

Ubiquinone
High cholesterol diet
Steroids during acute crisis

82
Q

Glutaryl-CoA dehydrogenase deficiency causes

A

Glutaric aciduria type 1

Mitochondrial enzyme

Cofactor: riboflavin

83
Q

Decompensation following an infection with macrocephaly, neuro symptoms and hepatic dysfunction suggests

A

Glutaric aciduria type 1

84
Q

Glutaric aciduria type 1 labs are

A 
Hypoglycemia
Hyperammonemia
Elevated urine glutaric avoid
Carnitine deficiency
Low Glutaryl-CoA dehydrogenase activity

Imaging: frontotemporal atrophy

85
Q

Glutaric aciduria type 1 is treated with

A

Carnitine
Riboflavin
Low protein diet (Low lysine and tryptophan)

86
Q

Hypoketotic hypoglycemia is caused by

A

Hydroxymethylglutaryl-CoA lyase deficiency

Avoid fasting

87
Q

Fatty acid oxidation defects are broadly caused by

A

Fatty acid acyl CoA dehydrogenases

Hydroxylase-CoA dehydrogenases

88
Q

Medium chain acyl-CoA dehydrogenase deficiency prevents infants from converting _____ to ______ resulting in

A

Fat to glucose (fatty acids can’t complete process to acetyl-CoA)

Hypoketotic hypoglycemia
Carnitine deficiency

89
Q

3-hydroxyacyl CoA dehydrogenase causes

A

Long chain 3-hydroxylacyl-CoA deficiency

90
Q

Increased 3-hydroxy-dicarboxylic acid, plasma 3-,hydroxylacyl carnitine and decreased carnitine is diagnostic for

A

Long chain 3-hydroxyacyl-CoA deficiency

91
Q

Management of fatty acid oxidation disorders should include

A

High carbohydrate, low fat diet
Avoid fasting
+/- carnitine

92
Q

Carnitine is produced from

A

Lysine

93
Q

A transport cofactor for long chain FA is

A

carnitine

94
Q

Carnitine deficiency is the result of

A

Failed synthesis from lysine
Defective transport
Excess carnitine depletion due to carnityl ester excretion (propionate and fatty acid defect pathways)
Prematurity +/- TPN

95
Q

Carnitine deficiency causes

A

Hypoketotic hypoglycemia
Impaired ketone production

Rx: carnitine supplementation

96
Q

Multiple acyl-CoA dehydrogenase deficiency causes

A

Glutaric aciduria type 2

97
Q

Glutaric aciduria type 2 presents with

A 
Dysmorphic features
Cardiomyopathy
Sweaty feet
Macrocephaly
Rocker bottom feet
Metabolic acidosis/hypoglycemia
Urine organic acid abnormalities
98
Q

Ann absence of a hydrolytic enzyme with accumulation of cellular material is a

A

Lysosomal storage disease

99
Q

The hallmark sign of mucopolysaccharidoses is

A

Dysostosis multiplex

100
Q

______ is a pathognomonic sign for lupus storage disease that affects the brain

A

Macular cherry red spots

101
Q

The only mucopolysaccharidoses disease with x-linked inheritance (instead of autosomal recessive) is

A

Type 2, Hunter syndrome

102
Q

Both Hurler (type 1) and type 2 (Hunter) MPS present around ______ and present with ______

A

1 year

Coarse features
Short statute
CNS functional loss
Stiff joints

103
Q

Lipidoses are more likely that MPS to present

A

In infancy

104
Q

______ lipidosis disease is more common in Ashkenazi Jewish population

A

Gaucher 1 and 2

105
Q

Gaucher disease is caused by

A

Defect in glucocetebrosidase

106
Q

Niemann Pick is a ______ disease caused by _____

A

Lipidosis

Sphingomyelinase

Bone marrow foam cells
Cherry red spots in macula (Lipidosis/Niemann Pick A» B)

107
Q

Tay Sachs disease is a _____ disease caused by _____

A

Lipidosis

Defect in hexosaminidase A

*Cherry red macular spots
Profound CNS losses

108
Q

Defect in B-galactosidase is the cause of _____ that presents with ________

A

Generalized gangliosidosis/infantile GM 1

Cherry red macular spots
Profound CNS losses
Inclusions in WBC

109
Q

Metachromatic leukodystrophy is caused by ____ and presents mainly with ______

A

Arylsulfatase A

Profound CNS losses

110
Q

Fabry disease is a ______ disease caused by _______

A

Lipidosis

A-galactosidase

111
Q

Fabry disease presents with ____ and is the lipidoses inherited

A

Cloudy cornea
HSM

X-linked

112
Q

Defect in B-galactosidase causes birth infantile GM 1 and ____ which has ____

A

Krabbe disease

Optic atrophy
Profound CNS losses

113
Q

Acid lipase defect causes

A

Wolman disease–>

Adrenal calcifications

114
Q

Most lipidoses have pristine CNS effects except

A

Gaucher 1
Niemann-Pick
Fabry

115
Q

The lipidoses with cherry red spots present are

A

Niemann-Pick
Tay Sachs
Infantile GM 1

116
Q

Gaucher 1 has _____ while Tay Sachs has ______ and Niemann-Pick had _____

A

HSM

Cherry red spots AND CNS disease

HSM AND cherry red spots AND CNS disease

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