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Metabolism Flashcards

1
Q

What does galactokinase do and what results from a deficiency of it?

A

Converts glucose and galactose to galactose 1-phosphate + UDP glucose; deficiency is galactokinase deficiency where only symptom is cataracts

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2
Q

Galactosemia cause and symptoms

A

Deficiency of galactose-1-phosphate uridyl transferase (GALT)
Autosomal recessive
Poor feeding, vomiting, jaundice, helatomegaly, liver failure, lethargy, cataracts, E. coli sepsis

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3
Q

Cause of cataracts in galactosemia

A

Excess galactitol in lens, regress with good control of dietary lactose

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4
Q

Long term consequences of galactosemia

A

Older children with learning disabilities despite therapy; increased risk of premature ovarian failure even if treated appropriately

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5
Q

Laboratory findings in galactosemia

A
  1. Low glucose
  2. elevated liver function tests, elevated indirect bilirubin
  3. Decreased coagulation factors
  4. increased galactose in urine (represented by reducing substances, a positive urine Clinitest but negative clinistix urine test)
  5. Elevated galactose-1 phosphate
  6. Hyperchloremic metabolic acidosis due to rental tubular dysfunction
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6
Q

Enzyme in glycogen storage disease type I

A

Glucose-6-phosphatase (von Gierke’s disease)

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7
Q

Symptoms of glycogen storage disease type I

A

Lactic acidosis
Low glucose
Neutropenia (and increased risk of infection)
Hepatomegaly
FTT
Bleeding disorder (due to liver dysfunction)

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8
Q

Enzyme affected in type II glycogen storage disease

A

Lysosomal alpha-1,4-glucosidase (acid maltase)

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9
Q

Symptoms of Pompe’s disease

A

(Type II glycogen storage disease)
Symmetric severe muscle weakness
Cardiomegaly, CHF

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10
Q

Enzyme in type III glycogen storage disease

A

Debranching enzyme (alpha-1,6-glucosidase)
Cori disease vs Forbes disease

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11
Q

Symptoms of type III glycogen storage disease

A

Low glucose, ketonuria, hepatomegaly, muscle fatigue, normal lactate!

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12
Q

Enzyme in type IV glycogen storage disease

A

Branching enzyme

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13
Q

Symptoms of type IV glycogen storage disease

A

Cirrhosis beginning at several months of age, hypotonia, muscle weakness; no signs in neonatal period; very poor prognosis-death from liver failure <4 years of age unless liver transplant

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14
Q

Enzyme in type V glycogen storage disease

A

Muscle phosphorylase (McArdle)

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15
Q

Symptoms of type V glycogen storage disease

A

Muscle fatigue in adolescence, myoglobinuria with strenuous exercise, arrhythmia from electrolyte abnormalities, no increase in lactate after exercise

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16
Q

Enzyme in type VI glycogen storage disease, affected organ and symtpoms

A

Liver phosphorylase, liver affected
Mild hypoglycemia, ketonuria
Hepatomegaly

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17
Q

Enzyme in type VII glycogen storage disease, affected organ, and symptoms

A

Muscle phosphorfructokinase, muscle, muscle fatigue in adolescence

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18
Q

Enzyme in type VIII glycogen storage disease, affected organ, and symptoms

A

Phosphorylase kinase, liver
Similar to type III but no myopathy
Low glucose, ketonuria, hepatomegaly

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19
Q

What do you have to remove from diet in fructosemia?

A

Fructose, sucrose (fructose+glucose), and sorbitol (alcohol form of glucose but to use is converted to fructose)

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20
Q

Enzyme deficiency in fructosemia

A

Fructose 1-phosphate aldolase (aldolase B)
Expressed in liver, intestine, kidney

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21
Q

Symptoms of fructosemia

A

Vomiting, lethargy, seizures, failure to thrive, liver disease, proximal renal tubular dysfunction

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22
Q

Lab findings in fructosemia

A

Low glucose, abnormal LFTs, reducing substances in urine

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23
Q

Genetics and pathway affected in OTC deficiency

A

X-linked recessive
OTC converts carbamyl phosphate to citrulline in the mitochondria

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24
Q

Symptoms and labs in otc deficiency

A

Extremely elevated urine orotic acid, hyperammonemia, increased glutamine and alanine, decreased citrulline, decreased arginine

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25
Q

Hyperammonemia with normal or low orotic acid, increased glutamine and alanine, decreased citrulline, decreased arginine

A

Carbamoyl phosphate synthetase deficiency (congenital hyperammonemia type I)

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26
Q

Hyperammonemia, respiratory alkalosis, normal glucose

A

Urea cycle defects

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27
Q

Why do you have respiratory alkalosis in urea cycle defects

A

Thought to result from central hyperventilation, because of cerebral edema from hyperammonemia

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28
Q

Brittle hair, very high citrulline, orotic aciduria, decreased arginine

A

Arginosuccinic acid synthetase deficiency

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29
Q

Only urea cycle defect with high arginine

A

Argininenia (arginase deficiency, which should convert arginine to urea and ornithine); increased risk of progressive spastic diplegia

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30
Q

Which amino acid needs supplementation in urea cycle disorders

A

Arginine (except if arginase deficiency)

OTC, carbamoyl synthase, and n-acetylglutamate deficiencies may also need small doses of citrulline

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31
Q

Amino acids in MSUD

A

Leucine, isoleucine, valine

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32
Q

Ketonuria, hypoglycemia, metabolic acidosis, maple syrup odor

A

Maple syrup urine disease

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33
Q

What to send if state screen high leucine

A

Urine ketones
Plasma amino acids
Urine organic acids

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34
Q

Definitive diagnosis of MSUD

A

Lettie dehydrogenase assay of skin fibroblasts or WBCs (while definitive, not necessary)

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35
Q

Cognitive outcomes correlate with what is MSUD

A

Plasma leucine concentrations

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36
Q

Management of MSUD

A

Restrict intake of branched chain amino acids (need some because all at essential), consider thiamine (B1), may require dialysis if severe, avoid protein catabolism

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37
Q

Enzyme deficiency in MSUD

A

Ketoacid dehydrogenases

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38
Q

What to send if elevated citrulline on state screen

A

Ammonia, plasma amino acids, urine organic acids

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39
Q

Genetics of phenylketonuria

A

Autosomal recessive

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40
Q

Mousy or musty odor, severe mental deficiency, seizures, microcephaly, hypertonia, hypopigmentation

A

Phenylketonuria

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41
Q

Enzyme and reaction in phenylketonuria

A

Phenylalanine hydroxylase, converts phenylalanine to tyrosine

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42
Q

What to send if elevated phenylalanine on state screen

A

Plasma amino acids

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43
Q

Presentation of tyrosinemia I

A

Failure to thrive, acute liver, disease, or chronic liver disease, leading to cirrhosis, increased risk of rickets and cardiomyopathy, increased risk of hepatic malignancy later in life may also have renal tubular dysfunction, presenting with Fanconi syndrome

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44
Q

Enzyme involved in and typical laboratory findings in tyrosinemia I

A

Femarylacetoacetate hydrolase deficiency

Elevated tyrosine and elevated succinylacetone

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45
Q

Ocular lesions, skin lesions, neurological abnormalities

A

Tyrosinemia II

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46
Q

Treatment for tyrosinemia I

A

Diet low in tyrosine and phenylalanine, nitisinone (NTBC), which prevents breakdown of phenylpyruvate

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47
Q

Genetics of homocysteinuria

A

Autosomal recessive

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48
Q

Downward dislocated lens, osteoporosis, scoliosis, increased risk of fractures, tall stature, arachnodactyly, decreased joint mobility, developmental delay, seizures, increased risk of large thromboses and increased risk of bleeding

A

Homocysteinuria

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49
Q

What to send if elevated or decreased methionine on state screen

A

Plasma amino acids
Plasma homocysteine
Plasma methylmalonic acid

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50
Q

Most common cause of homocysteinuria

A

Cystathionine beta-synthase deficiency (requires B6 for enzyme to work); converts homocysteine to cystathionine

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51
Q

Management of cystathionine synthase deficiency

A

Administer high amounts of pyridoxine (B6), supplement B12 and folate, decrease methionine in diet, supplement with cysteine, consider vitamin C to improve endothelial function, antithrombotic agents may be need if poorly controlled

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52
Q

Lethargy, profound CNS deterioration with hypotonia, seizures, coma, respiratory depression, hiccups; most in 48 hours

A

Non-ketotic hyperglycinemia
Autosomal recessive, results from a defect in glycine cleavage pathway

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53
Q

Lab and EEG findings in non-ketotic hyperglycinemia

A

Elevated glycine (urine, plasma, CSF), no ketoacidosis

Diagnosis with elevated glycine in CSF and abnormal ratio of glycine in csf to plasma (>0.08)

EEG with burst suppression pattern that can become hypsarrhythmia

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54
Q

Management of non-ketotic hyperglycinemia

A

Sodium benzoate (decreases plasma glycine) can decrease seizures, dextromethomorphan (and NMDA antagonist) may improve neurological signs, variable response to ketogenic diet

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55
Q

Clinical and lab finds of cysteinuria

A

Urolithiasis, hematuria, pyuria, urinary obstruction and possible renal failure, labs: increased cysteine in urine with decreased cysteine levels in blood due to defect in amino acid transport and decreased reabsorption in kidney

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56
Q

Test for cystinuria

A

Positive nitroprusside blue test

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57
Q

Management of cysteinuria

A

Hydration, alkalinization of urine with sodium bicarbonate, potassium or sodium citrate, restrict methionine in diet, start thiol drug if above not effective

58
Q

Diagnosis of histidinemia

A

Add aqueous ferric chloride to urine to detect imidazole pyruvic acid (turns blue-green)

59
Q

Lab findings in lysinuric protein intolerance

A

Hyperammonemia, lysinuria with low plasma lysine levels, also with low plasma arginine and ornithine levels, increased LDH

60
Q

Treatment of lysinuric protein intolerance

A

Citrulline supplementation, sodium benzoate or sodium phenylbutyrate to decreased nitrogen load, may need carnitine supplementation, calcium, vitamin and trace element supplementation, growth hormone, statins if hypercholesterolemia

61
Q

Pellagra-like skin diseases ataxia, muscle pain, weakness, occasional mental deficiency or seizures

A

Hartnip disease (autosomal recessive defect in amino acid transport across cell membranes, leading to decreased tryptophan availability)

62
Q

Management of Hartnup disease

A

Oral niacin or nictinamide, high-quality protein diet, oral neomycin (delays tryptophan degradation), avoid sunlight

63
Q

Isobaric aciduria results from:

A

Abnormal leucine metabolism

64
Q

Inheritance pattern of isovaleric aciduria

A
65
Q

Enzyme deficiency in isovaleric aciduria

A

Isovaleryl-coa dehydrogenase

66
Q

Which enzyme requires biotin?

A

The enzyme to convert 3-methylcrotonyl-coa to 3-methylglutaconyl-coa

So if biotin deficient, get 3-methtlcrotonyl glycinuria

67
Q

Odor of sweaty feet, poor feeding, vomiting, lethargy, moderate hematomegaly, intermittent neurological signs (hypotonia, tremor, developmental delay)

A

Isovaleric aciduria

68
Q

Lab findings in isovaleric aciduria

A

Metabolic acidosis (increased anion gap), urine ketones, majority with normal glucose, hypocalcemia, elevated lactate, may have neutropenia/thrombocytopenia

69
Q

Diagnosis of isovaleric aciduria

A

Increased C5 acylcarnitine on state newborn screen
Increased urine isovalerylglycine and isovaleric acid
Decreased isovaleryl-coa dehydrogenase activity in skin fibroblasts or blood leukocytes

70
Q

Management of isovaleric aciduria

A

Acute: glucose infusion, possible toxin removal by exchange or dialysis, l-carnitine to increased isovalerylglycine excretion, administer glycine, carbamyl glutamine

Chronic: restrict protein intake, supplemental glycine and carnitine

71
Q

Symptoms of 3-methylcrotonyl glycinuria

A

Lethargy, poor oral intake, vomiting, hypotonia, hyperreflexia, seizures

72
Q

Lab findings in 3-methylcrotonyl glycinuria

A
  • Increased 3-methylcrotonyl glycine in urine with extremely low total and free plasma carnitine levels
  • metabolic acidosis
  • urine ketones
  • hyperammonemia
  • hypoglycemia
  • urine odor similar to male cat urine
73
Q

Diagnosis of 3-methylcrotonyl glycinuria

A

Increased 3-hydroxylisovaleric acid and 3-methtlcrotinylglycine during acute episodes; confirmation by decreased enzyme assay

74
Q

Management of 3-methylcrotonyl glycinuria

A

Oral glycine and carnitine may be beneficial, unclear if mildly decreased protein diet is beneficial

75
Q

Deficiency in propionic aciduria

A

Priopionyl-coa carboxylase
Also requires biotin

Deficiency is autosomal recessive

76
Q

Enzyme deficiency in methylmalonic aciduria

A

Methylmalonyl-coa isomerase
Requires cobalamin (B12)

77
Q

Lab findings in propionate pathway abnormalities

A

Metabolic acidosis, ketonuria, hypocalcemia, increased lactate, neutropenia, thrombocytopenia, normal to low glutamine, hyperammonemia

78
Q

Diagnosis of propionate pathway defects

A

Plasma carnitine reveals increased C3 acylcarnitine, increased glycine, testing of urine organic acids reveals increased metabolites

79
Q

Outcome of propionate pathway defects

A

Can improve outcomes with early treatment, but still at risk for cognitive defects, survival into early childhood is greater than 70%, renal transplant likely needed if methylmalonic aciduria, MMA associated with more severe neurological outcomes

80
Q

Management of oropionate pathway defects

A

Treatment for hyperammonemia as needed
Hydration, low protein diet, thiamine and B12 supplementation
Carnitine supplementation
Metronidazole therapy to decreased urinary excretion of metabolites
Growth hormone

81
Q

Enzyme deficiency in glutamic aciduria type I

A

Glutaryl-coa dehydrogenase
Dependent on riboflavin (B2)

82
Q

Macrocephaly, progressive neurologic symptoms, hepatic dysfunction, motor delay

A

Glutaric aciduria

83
Q

Neuro imaging in glutaric aciduria often shows

A

Frontotemporal atrophy

84
Q

What is elevated in newborn screen for glutaric aciduria

A

C5 dicarboxylic

85
Q

Management of glutaric aciduria type I

A

Emergent treatment during illness: Frequent feedings with increased carbs, carnitine, anti-pyretics

Carnitine supplementation, consider riboflavin, low protein intake (specifically lysine and tryptophan, but increased arginine)

86
Q

What does hydroxylmethylglutaryl-coated lyase do

A

Important last step of ketone synthesis from fatty acids (also last step in leucine oxidation)

87
Q

Symptoms of HMG-coa lyase deficiency

A

Vomiting, seizures, hypotonia, hypotonic hypoglycemia, metabolic acidosis, increased lactate, abnormal LFYs

88
Q

What is the most common brain abnormality seen in patients with non-ketotic hyperglycinemia?

A

Agenesis of the corpus callosum

89
Q

The combination of metabolic acidosis, ketosis, and hyperammonemia is most suggestive of:

A

Organic acidemia

90
Q

Why does hyperammonemia occur in patients with an organic acidemia

A

Because excess levels of propionyl-coa need to inhibition of carbamyl phosphate synthase I

91
Q

Abnormal plasma acylcarnitines associated with: short chain acyl-coated dehydrogenase deficiency

A

C4, C5

92
Q

Abnormal plasma acylcarnitines associated with: medium-chain acyl-coa dehydrogenase deficiency

A

C6, C8, C10:1

93
Q

Abnormal plasma acylcarnitines associated with: long-chain acyl-coa dehydrogenase deficiency

A

C16:1-OH, C16-OH, C18:1-OH, C18-OH

94
Q

Abnormal plasma acylcarnitines associated with: very long-chain acyl-coa dehydrogenase deficiency

A

C14:1, C14:2, C16:1, C18:1

95
Q

Most common and mildest fatty acid oxidation disorder

A

MCAD

96
Q

Symptoms of MCAD

A

Typically asymptomatic in newborn, but may present with hypoglycemia and arrhythmias

Carnitine deficiency, no ketones, hypoketotic hypoglycemia in starvation state, encephalopathy, severe acidosis

97
Q

Enzyme involved in and inheritance of LCHAD

A

3-hydroxylacyl CoA dehydrogenase
Autosomal recessive

98
Q

Feeding difficulty, vomiting, lethargy, cardiomyopathy, severe liver disease with cholestasis, hepatic encephalopathy, hypotonia, episodic rhabdomyolysis

A

LCHAD

99
Q

Suspect when mother with acute fatty liver disease and or HELLP

A

Heterozygous LCHAD-affected pregnant woman
Has a 1 in 5 chance of delivering infant with LCHAD

100
Q

Labs in LCHAD

A

Hypoketotic or nonketotic hypoglycemia, increased serum creatine phosphokinase, hyperammonemia, elevated LFTs, lactic acidosis

101
Q

Poor feeding, high forehead, flat, nasal bridge, short anteverted nose, midface hypoplasia, renal cyst, sweaty feet, hepatomegaly, rocker, bottom, feet, hypospadia, macrocephaly, cardiomyopathy, neuron migration abnormalities

A

Multiple acyl-coated dehydrogenase deficiency, aka glutamic aciduria type II

102
Q

Dysostosis multiplex is pathognomonic of

A

Mucopilysaccharidoses

103
Q

Macular cherry red spot is pathognomonic of

A

Lipid storage diseases affecting the brain

104
Q

Where are Alder-Reilly bodies found and when are they seen?

A

In white blood cells, seen in mucopolysaccharidosis

105
Q

Cloudy cornea, normal retina, hepatosplenomegaly, profound decrease in CNs function, short stature, kyphosis, hirsutism, stiff joints

A

Hurler syndrome
Alpha-iduronidase

106
Q

Mucopolysaccharoidosis with x-linked inheritance

A

Type II
Hunter syndrome

107
Q

Clear cornea, retinitis papilledema, hepatosplenomegaly, slow loss of CNS function, coarse facial features, short stature

A

Hunter syndrome

108
Q

Enzyme defect in gaucher disease

A

Glucocerebrisidase

109
Q

Defect in Neimann-Pick

A

Sphingomylenase

110
Q

Cherry red spot, hepatosplenomegaly, foam cells in bone marrow

A

Neimann-Pick A

111
Q

Cherry red spot, NO heparosplenomegaly, normal bone marrow, profound CNS loss

A

Tay-Sachs

112
Q

Defect in Tay-Sachs

A

Hexosasminidase A

113
Q

Cherry red spots, inclusions in WBC

A

Generalized gangliosidosis, infantile GM 1

114
Q

X-linked lipidosis

A

Fabry disease

115
Q

Enzyme in Fabry disease

A

Alpha-galactosidase

116
Q

Enzymes in Krabbe disease

A

Beta-galactosidase

117
Q

Lipidosis with adrenal calcifications

A

Wolman disease

118
Q

What vitamin does pyruvate dehydrogenase need

A

Thiamine (B1)

119
Q

Agenesis of corpus callosum, developmental delay, hypotonia, seizures, elevated pyruvate and lactate with normal lactate:pyruvate ratio (<25), metabolic acidosis

A

Pyruvate dehydrogenase complex deficiency

120
Q

Management of pyruvate dehydrogenase complex deficiency

A

Ketogenic diet to increase acetyl-coated levels, restriction of carbohydrates

121
Q

Hypothermia, hypotonia, severe neurological abnormalities, cystic periventricular leukomalacia, hepatmegaly, metabolic acidosis, elevated pyruvate and lactate, low hydroxybutyrate/acetoacetate ratio, ketonuria

A

Pyruvate carboxylase deficiency

122
Q

Which vitamin does pyruvate carboxylase require

A

Biotin

123
Q

Lactic acidosis with lactate levels&raquo_space; pyruvate levels

A

Respiratory chain disorders

124
Q

Genetics and pathway in mevalonic aciduria

A

Autosomal recessive- defect of mevalonate kinase, a component of cholesterol synthesis pathway

125
Q

Failure to thrive, developmental delay, dysmorphism, cataracts, malabsorption, recurrent episodes of fever with vomiting and diarrhea, lymphadenopathy, hepatosplenomegaly, arthralgia, hypotonia, ataxia

A

Mevalonic aciduria

126
Q

Labs in mevalonic acidosis

A

No metabolic acidosis, normal glucose, increased creatine kinase, increased LFTs, increased mevalonic acid

127
Q

Management of mevalonic aciduria

A

No effective treatment, minority benefit from corticosteroids, colchicine, or cyclosporine; minority benefit from simvastatin, a few may improve with etanercept, interleukin-1 receptor antagonists

128
Q

Seizures, immune deficits, alopecia, developmental delay, hearing deficits, episodes of hypoglycemia, lethargy, hypotonia

A

Biotinidase deficiency

129
Q

Metabolic condition associated with: biotin

A

Biotinidase deficiency, beta-methylcrotonyl glycinuria, propionic acidemia, pyruvate carboxylate deficiency

130
Q

Metabolic condition associated with: folic acid

A

Homocystinuria
Dihydropterine reductase deficiency

131
Q

Metabolic condition associated with: riboflavin

A

Glutamic aciduria I
MCAD deficiency
Glutaric aciduria II

132
Q

Metabolic condition associated with: pyridoxine

A

Cystathione beta-synthase deficiency (type of homocystenuria)

133
Q

Metabolic condition associated with: thiamine

A

MSUD
Pyruvate dehydrogenase complex deficiency

134
Q

Metabolic condition associated with: tetrahydrobiopterin

A

PKU
Dihydropteridine reductase deficiency

135
Q

Metabolic condition associated with: cobalamin

A

Methylamlonic aciduria
Homocysteinuria

136
Q

Metabolic condition associated with: vitamin C

A

Transient tyrosinemia
Chstathionjne synthase deficiency

137
Q

Genetics of Menkes disease

A

X-linked recessive

138
Q

Cause of menkes

A

Defect in a membrane copper transport channel, leading to poor absorption, and cellular distribution of copper

139
Q

Increased risk of pROM, increase risk of hypothermia and conjugated hyperbilirubinemia; brittle, kinky, steely hair, pudgy faces with sagging lips and abnormal eyebrow, developmental delay, skin and joint laxity, wormy and bones, osteoporosis, increase risk of UTI

A

Menkes disease

140
Q

Management of Menkes disease

A

Parental copper histidine

141
Q

Lab findings in Zellweger spectrum disorder

A

Absent of decreased peroxizomes
Increased very long chain FA
Increased methyl-branched fatty acids, increased urine pipecolic acid, bile acid accumulation

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