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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
Defect enzymes in fructosemia block metabolism of ____ to ______
``` Fructose To Fructose 1 phosphate To Glyceraldehyde+ dihydroxyacetone ```
26
Deficiency of ________ causes low orotic acid
N acetylglutamate synthetase
27
Deficiency of _______ causes congenital hyperammonemia type 1.
Carbamyl phosphate synthetase Autosomal recessive
28
Deficiency of _______ causes congenital hyperammonemia type 2
ornithine carbamyl transferase X lined recessive Extremely elevated urine orotic acid
29
Deficiency of ________ causes citrullinemia
Arginosuccinic acid synthetase
30
Deficiency of _______ causes arginosuccinic aciduria
Arginosuccinic aciduria Autosomal recessive
31
Arginosuccinic aciduria is inherited
Autosomal recessive
32
Deficiency of _______ causes argininemia
Arginase Autosomal recessive Spastic diplegia, orotic aciduria
33
Severe hyperammonemia and respiratory alkalosis suggests
Urea cycle defects
34
Elevated glutamine and alanine are found in
N acetylglutamate synthetase deficiency Carbamyl phosphate synthetase deficiency
35
________ deficiency has elevated glutamine, alanine, orotic acid, citrulline, and arginine
Arginase | Argininemia
36
_______ and _______ have elevated ____, ____, and _____ but low _______
Glutamine Alanine Citrulline Arginine
37
_______ and _______ have elevated ____, ____, and _____ but low _______
Arginosuccinic lyase Arginosuccinic acid synthetase Glutamine Alanine Citrulline Arginine
38
Citrulline supplementation should be given to patients with
Carbamyl phosphate synthetase Ornithine carbamyl transferase N acetylglutamate synthetase
39
Increased leucine, valine and isoleucine indicate
Maple syrup urine disease
40
MSUD is inherited
Autosomal recessive
41
MSUD is caused by
Thiamine deficiency for ketoacid dehydrogenases
42
Cognitive outcomes of MSUD are based on
Plasma leucine levels
43
Phenylketonuria is inherited _____ and due to _____
Autosomal recessive Phenylalanine hydroxylase deficiency
44
Labs in phenylketonuria are
Elevated phenylalanine Decreased tyrosine
45
A defect in _____ can mimic classic PKU
Tetrahydrobiopterin
46
Classic PKU is diagnosed by
Newborn screen ^ phenylalanine Phenylpyruvic acid in urine
47
Pterin defect PKU is diagnosed by
Dihydrobiopterin reductase in RBC's
48
Elevated phenylalanine with elevated tyrosine is
Transient tyrosinemia
49
Fumarylacetoacetate hydrolase deficiency causes
Tyrosinemia
50
Blood and urine succinylacetone indicates
Maple syrup urine disease
51
Severe liver disease with albinism and fanconi syndrome is
Maple syrup urine disease
52
Labs in MSUD are
Increased tyrosine, urinary fumarylacetoacetate, methionine Normal phenylalanine
53
MSUD is treated with
Nitisinone
54
Homocystinuria can be caused by either
Defect in betaine-methyltransferase/methyltetrahydrofolate-homocysteine methyltransferase ---> low methionine OR cystathionine synthetase deficiency
55
The most common cause of homocysteinuria is _____ and can mimic _____
Cystathionine synthetase deficiency Marfan's (except with joint decreased movement)
56
Labs in homocysteinuria are
Elevated methionine Elevated homocysteinuria +Nitroprusside test Decreased cystathionine synthetase levels in skin
57
Homocystinuria is treated with
High pyridoxine supplement | Limit methionine, increase cysteine/folate in diet
58
A defect in the glycine cleavage pathway causes
Nonketotic hyperglycinemia Defective conversion of glycine to ammonia
59
Nonketotic hyperglycinemia is inherited _____ and prognosis is ______
Autosomal recessive Very poor, high risk of death in first few weeks
60
A metabolic disorder associated with agenesis of the corpus collosum is
Nonketotic hyperglycinemia
61
Labs in nonketotic hyperglycinemia are
Elevated glycine No ketoacidosis
62
Nonketotic hyperglycinemia is treated with
Sodium benzoate Diazepam sectionalism Dextromethorphan
63
Histidine deficiency causes
Histidinemia Autosomal recessive Benign-> mild delays Blue green urine when combined with ferric chloride
64
Cystinuria is
Autosomal recessive Amino acid transport defect--> cysteine deficiency Urolithiasis, nitroprusside shows cysteine in urine Rx: methionine restriction, urine alkalinization, d-penicillamine
65
Lysine, arginine, ornithine deficiency due to amino acid transport defect is
Lysinuric protein intolerance
66
Lysinuric protein intolerance presents when
Infants diet begins to include protein
67
Labs in lysinuric protein intolerance are: | Treated with:
Hyperammonemia High lysine in urine/low lysine in plasma Rx: citrulline, glucose energy, sodium benzoate, sodium phenylacetate
68
Decreased tryptophan due to defective amino acid transport is
Hartnup disease
69
The cause of 'blue diaper syndrome' is
Blue colored urine due to abnormal intestinal tryptophan transport
70
Deficient isovaleryl-CoA dehydrogenase causes
isovaleric acidemia
71
Isovaleric acidemia causes
Buildup of leucine, urine isovalerylglycine and isovaleric acid
72
Diagnosis of isovaleric acidemia
Decreased isovaleryl-CoA dehydrogenase activity in skin Sweaty feet odor
73
Defective function of isovaleryl-CoA dehydrogenase due to biotin deficiency causes
3-methylcrotonyl glycinuria
74
Both isovaleric acidemia and 3-methycrotonyl glycinuria can be treated with
Glycine Carnitine 3-methylcrotonyl glycinuria: biotin
75
Propionic acidemia is caused by
Autosomal recessive deficiency of propionyl -CoA carboxylase
76
Methylmalonyl-CoA isomerase deficiency causes
Methylmalonic acidemia
77
Both ketotic hyperglycinemia, propionic acidemia and methylmalonic acidemia, have required cofactors _____ and ______ for enzymes to function.
Biotin : propionyl -CoA carboxylase Cobalamin : Methylmalonyl-CoA isomerase
78
Labs in both ketotic hyperglycinemia are
``` Ketoacidosis Hyperglycinemia Hypoglycemia Hyperammonemia Elevated blood and urine acylcarnitines ```
79
Treat both ketotic hyperglycinemias (propionic acidemia and methylmalonic acidemia) with
Cofactor replacement Limit amino acid methionine, threonine, valine, leucine Antibiotics to reduce intestinal flora Carnitine
80
Defective mevalonate kinase causes
Mevalonic aciduria--> Dysmorphic features Cataracts Increased creatine kinase, LFT's, mevalonic acid
81
Mevalonic aciduria can be treated with
Ubiquinone High cholesterol diet Steroids during acute crisis
82
Glutaryl-CoA dehydrogenase deficiency causes
Glutaric aciduria type 1 Mitochondrial enzyme Cofactor: riboflavin
83
Decompensation following an infection with macrocephaly, neuro symptoms and hepatic dysfunction suggests
Glutaric aciduria type 1
84
Glutaric aciduria type 1 labs are
``` Hypoglycemia Hyperammonemia Elevated urine glutaric avoid Carnitine deficiency Low Glutaryl-CoA dehydrogenase activity ``` Imaging: frontotemporal atrophy
85
Glutaric aciduria type 1 is treated with
Carnitine Riboflavin Low protein diet (Low lysine and tryptophan)
86
Hypoketotic hypoglycemia is caused by
Hydroxymethylglutaryl-CoA lyase deficiency Avoid fasting
87
Fatty acid oxidation defects are broadly caused by
Fatty acid acyl CoA dehydrogenases | Hydroxylase-CoA dehydrogenases
88
Medium chain acyl-CoA dehydrogenase deficiency prevents infants from converting _____ to ______ resulting in
Fat to glucose (fatty acids can't complete process to acetyl-CoA) Hypoketotic hypoglycemia Carnitine deficiency
89
3-hydroxyacyl CoA dehydrogenase causes
Long chain 3-hydroxylacyl-CoA deficiency
90
Increased 3-hydroxy-dicarboxylic acid, plasma 3-,hydroxylacyl carnitine and decreased carnitine is diagnostic for
Long chain 3-hydroxyacyl-CoA deficiency
91
Management of fatty acid oxidation disorders should include
High carbohydrate, low fat diet Avoid fasting +/- carnitine
92
Carnitine is produced from
Lysine
93
A transport cofactor for long chain FA is
carnitine
94
Carnitine deficiency is the result of
Failed synthesis from lysine Defective transport Excess carnitine depletion due to carnityl ester excretion (propionate and fatty acid defect pathways) Prematurity +/- TPN
95
Carnitine deficiency causes
Hypoketotic hypoglycemia Impaired ketone production Rx: carnitine supplementation
96
Multiple acyl-CoA dehydrogenase deficiency causes
Glutaric aciduria type 2
97
Glutaric aciduria type 2 presents with
``` Dysmorphic features Cardiomyopathy Sweaty feet Macrocephaly Rocker bottom feet Metabolic acidosis/hypoglycemia Urine organic acid abnormalities ```
98
Ann absence of a hydrolytic enzyme with accumulation of cellular material is a
Lysosomal storage disease
99
The hallmark sign of mucopolysaccharidoses is
Dysostosis multiplex
100
______ is a pathognomonic sign for lupus storage disease that affects the brain
Macular cherry red spots
101
The only mucopolysaccharidoses disease with x-linked inheritance (instead of autosomal recessive) is
Type 2, Hunter syndrome
102
Both Hurler (type 1) and type 2 (Hunter) MPS present around ______ and present with ______
1 year Coarse features Short statute CNS functional loss Stiff joints
103
Lipidoses are more likely that MPS to present
In infancy
104
______ lipidosis disease is more common in Ashkenazi Jewish population
Gaucher 1 and 2
105
Gaucher disease is caused by
Defect in glucocetebrosidase
106
Niemann Pick is a ______ disease caused by _____
Lipidosis Sphingomyelinase Bone marrow foam cells Cherry red spots in macula (Lipidosis/Niemann Pick A>> B)
107
Tay Sachs disease is a _____ disease caused by _____
Lipidosis Defect in hexosaminidase A *Cherry red macular spots Profound CNS losses
108
Defect in B-galactosidase is the cause of _____ that presents with ________
Generalized gangliosidosis/infantile GM 1 Cherry red macular spots Profound CNS losses Inclusions in WBC
109
Metachromatic leukodystrophy is caused by ____ and presents mainly with ______
Arylsulfatase A Profound CNS losses
110
Fabry disease is a ______ disease caused by _______
Lipidosis A-galactosidase
111
Fabry disease presents with ____ and is the lipidoses inherited
Cloudy cornea HSM X-linked
112
Defect in B-galactosidase causes birth infantile GM 1 and ____ which has ____
Krabbe disease Optic atrophy Profound CNS losses
113
Acid lipase defect causes
Wolman disease--> | Adrenal calcifications
114
Most lipidoses have pristine CNS effects except
Gaucher 1 Niemann-Pick Fabry
115
The lipidoses with cherry red spots present are
Niemann-Pick Tay Sachs Infantile GM 1
116
Gaucher 1 has _____ while Tay Sachs has ______ and Niemann-Pick had _____
HSM Cherry red spots AND CNS disease HSM AND cherry red spots AND CNS disease

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