CHAPTER 9: UA FOR METABOLIC DISORDERS Flashcards
(89 cards)
1
Q
These are amino acid disorders (9)
A
- Phenylketonuria (PKU)
- Tyrosyluria
- Melanuria
- Alkaptonuria
- Maple syrup urine disease (MSUD)
- Organic acidemias
- Indicanuria
- Cystinosis
2
Q
Overflow inherited disorders
A
- Phenylketonuria
- Tyrosinemia
- Alkaptonuria
- Maple syrup urine disease
- Organic acidemias
- Cystinosis
- Porphyria
- Mucopolysaccharidoses
- Galactosemia
- Lesch-Nyhan disease
3
Q
Metabolic disorders
A
- Infantile tyrosinemia
- Melanuria
- Indicanuria
- 5-Hydroxyindoleacetic acid
- Porphyria
4
Q
Renal disorders
A
- Hartnup disease
- Cystinuria
5
Q
Results from disruption of
a normal metabolic pathway
A
Overflow disorders
6
Q
Causes increased plasma
concentration of the non-metabolized substances.
A
Overflow disorders
7
Q
Failure to inherit gene to produce a particular enzyme
A
Inborn Error of Metabolism (IEM)
8
Q
Capable of screening the infant blood sample for specific substances associated with particular IEMs
A
Tandem mass spectrophotometry (MS/MS)
9
Q
Major inherited disorders (Phenylalanine-Tyrosine Disorders)
A
- PKU
- Alkaptonuria
- Tyrosyluria
10
Q
Most well-known of the aminoacidurias. Occurs in 1 OF EVERY 10,000 TO 20,000 BIRTHS and undetected, can lead to severe mental retardation
A
Phenylketonuria (PKU)
11
Q
Phenylketonuria (PKU) is identified by?
A
Ivan Folling (1934) in Norway
12
Q
Mentally retarded children’s urine:
A
Mousy odor
13
Q
PKU is caused by failure to inherit gene to produce enzyme:
A
phenylalanine hydroxylase
14
Q
Analysis of urine in PKU
A
Increase amount of keto acids (phenylpyruvate)
15
Q
If the cut-off level for normal results is lowered from ______ to ______, the presence of PKU should be detected
A
4mg/dl; 2mg/dl
16
Q
Phenylalanine can be detected as early as?
A
4 hours after birth
17
Q
This is used in urine testing as follow-up test to ensure proper dietary control
A
Ferric Chloride
18
Q
FERRIC CHLORIDE + URINE WITH
PHENYLPYRUVIC ACID =
A
permanent BLUE GREEN COLOR
19
Q
Excess tyrosine in plasma
A
Tyrosinemia
20
Q
Disorder of Tyrosine Metabolism can either be?
A
Inherited or Metabolic defects
21
Q
Tyrosine degradation products:
A
- p-hydroxyphenylpyruvic acid
- p-hydroxyphenyllactic acid
22
Q
Frequently seen in pre-mature infants and is caused by underdevelopment of liver function
A
Tyrosinemia
23
Q
Produces tyrosyluria resembling transitory newborn screening variety & more serious conditions.
A
Acquired severe liver disease
24
Q
Hereditary disorder in which enzymes required in metabolic pathway are not produced
A
Aminoaciduria
25
Hereditary disorders are classified into several types producing:
1. Tyrosylemia
2. Tyrosyluria
26
Caused by the enzyme **fumarylacetoacetate hydrolase (FAH)**
Type 1 Tyrosinemia
27
Produces a **generalized renal tubular disorder** and progressive liver failure in infants soon after birth.
Diagnosed by the detection of **tyrosine and succinylacetone** in the urine and blood.
Type 1 Tyrosinemia
28
Caused by the **lack of the enzyme tyrosine aminotransferase**.
People with this condition develop **corneal erosions** and **lesions** on the **palms, fingers, and soles of the feet**, believed to be caused by crystallization of tyrosine in the cells.
Type 2 tyrosinemia
29
This is used as a screening test for Tyrosinemia types 1, 2, and 3
MS/MS
30
Caused by lack of the enzyme
**p-hydroxyphenylpyruvic acid dioxygenase.**
Type 3 tyrosinemia
31
This can result in intellectual disability, seizures, and **intermittent ataxia** if dietary restrictions of phenylalanine and tyrosine are not implemented
Type 3 tyrosinemia
32
In Nitroso-Naphtol Test for tyrosine what color produced should be observed?
**Orange-red ***which indicate Tyrosine metabolite*
33
Pigment responsible for the dark color of hair, skin, and eyes
Melanin
34
Deficient production of melanin
Albinism
35
Causes the darkening that appears after urine is exposed to air
Urinary melanin
36
This is a serious finding that indicates proliferation of the normal melanin-producing cells (melanocytes), producing a malignant melanoma
Elevated Urinary Melanin
37
Produces **5,6,-hydorxyindole** that will oxidize melanogen to melanin.
Malignant Myeloma
38
**One of the six original inborn errors of metabolism** described by Garrod in 1902
Alkaptonuria
39
Urine from patients with this condition darkened after becoming **alkaline** from standing at room temperature
Alkaptonuria
40
3rd major aminoacidura
Alkaptonuria
41
Used for **Quantitating Homogentisic Acid.**
Gas chromatography–mass spectrometry (GC-MS)
42
Alkaptonuria results because of failure to inherit the gene to produce the enzyme
homogentisic acid oxidase
43
Two Major Groups of Branched-Chain Amino Acid Disorders:
1. Maple Syrup Urine Disease (MSUD)
2. Organic Acidemia
44
Accumulation of **one or more of the early amino acid** degradation products
Maple Syrup Urine Disease (MSUD)
45
Accumulation of organic acids produced further down in the amino acid metabolic pathway
Organic Acidemia
46
This differs from other amino acids by having **METHYL
GROUP**
Branched-Chain Amino Acid
47
This is **also included in newborn screening using MS/MS**. Caused by IEM, inherited an **autosomal recessive trait**.
Maple Syrup Urine Disease (MSUD)
48
Amino acids involved in Maple Syrup Urine Disease (MSUD)
**LIV**
1. Leucine
2. Isoleucine
3. Valine
49
Reacts in several of the routinely used screening tests for metabolic disorders.
Homogentisic acid
50
Homogentisic acid reacts to **ferric chloride test** by producing?
deep blue color
51
Homogentisic acid reacts to **Clinitest** by producing?
Yellow precipitate *indicates the presence of a reducing substance*
52
Another screening test for urinary homogentisic acid is to add ______to freshly voided urine and observed for darkening of the color.
However, large amounts of _________ interfere with this reaction
alkali; ascorbic acid
53
Ketunoria in newborn
Branched-Chain Amino Acid Disorder
54
Deficiency in **decarboxylases** and **transaminases**
Maple Syrup Urine Disease (MSUD)
55
3 Common encountered acidemias:
1. Isovaleric Acidemia
2. Propionic Acidemia
3. Methylmalonic Acidemia
*detected by newborn screening program using MS/MS*
56
Possess a characteristic odor of ***sweaty feet***. Caused by the accumulation of **isovalerylglycine** and eficiency in **isovaleryl coenzyme**
Isovaleric Acidemia
57
Result from errors in the metabolic pathway converting isoleucine, valine, threonine, and
methionine to succinyl coenzyme A
Propionic and Methylmalonic Acidemia
58
Immediate precursor to methylmalonic acid
Propionic acid
59
increased amounts of tryptophan are converted to indole and then to indican then eventually excreted in urine
Indicanuria
60
Seen in malabsorption, obstruction, and in** rare inherited disorder (Hartnup’s disease.)**
Indicanuria
61
Caused by excessive production of SEROTONIN, which results to elevated urinary 5-HIAA
5-Hydroxyindoleacetic Acid
62
Metabolism of tryptophan is the increase urinary excretion of metabolites:
Indicant and 5-Hydroxyindoleacetic Acid (5-HIAA)
63
Normal daily excretion of 5-HIAA is
2-8 mg/ day.
64
In 5-HIAA, increased production is seen in?
argentaffinoma (>25 mg/day)
65
Defect in the renal transport of amino acid and is characterized by marked by elevated amounts of the amino acid cystine in the urine
Cystinuria
66
Sulfur odor of urine sample
Cystinuria
67
Regarded as a genuine Inborn Error of Metabolism
Cystinosis
68
Presence of **crystalline deposits of cystine crystals in different areas of the body** (eyes, BM, lymph nodes)
**Fanconi’s syndrome** also occurs.
Cystinosis
69
Due to the defect in methionine metabolism.
Homocystinuria
70
Increased in this can result in failure to thrive, cataracts, mental retardation, thromboembolic problems, and death
homocystine
71
intermediate compounds in the production of heme
Porphyrin
72
A common disease of early royalty in Europe as a result of intermarriage among the royals of different countries.
Porphyria
73
Disorders of porphyrin metabolism. Can be inherited or acquired from erythrocytic and
hepatic malfunctions or exposure to toxic agents.
Porphyria
74
**Skeletal structure is abnormal**. There is severe mental retardation.
Hurler’s Syndrome
74
Products most frequently found in the urine are dermatan sulfate, keratan sulfate, and heparan sulfate
Mucopolysaccharide
75
**Accumulation** of ***mucopolysaccharide*** in the cornea of the eye
Hurler’s Syndrome
75
Can cause mental retardation ONLY!
Sanfilippo’s Syndrome
75
An inherited disorder that is characterized by **massive excretion** of urinary URIC ACID Crystals
Lesch-Nyhan Disease
76
Deficiency in hypoxanthine-guanine phosphoribosyl transferase.
Lesch-Nyhan Disease
77
Patients suffer from *severe motor defects*, mental retardation **tendency toward self- destruction**, gout, and renal calculi
Lesch-Nyhan Disease
78
A general term pertaining to **increased urinary sugar**. **Inherited in nature** and ***does not cause*** any disturbance in the body’s metabolism.
Melituria
78
The presence of galactose in urine is due to the inability of the body to metabolize galactose to glucose
Galactosuria
79
Galactosuria can be caused by the deficiency in any of the three
enzymes:
1. Galactose-1-phosphate uridyl transferase (GALT)
2. Galactokinase
3. UDP-galactose-4-epimerase
80
Can cause the **most severe** and **fatal symptoms associated** with ***galactosuria***
Galactose-1-phosphate uridyl transferase (GALT)
81
Deficiency can cause **cataract development in *adulthood***
Galactokinase
82
May be ***asymptomatic*** or can produce **mild melaturic
symptoms**.
UDP-galactose-4-epimerase
83
Other causes of Melituria
Lactosuria and Fructosuria
83
Associated with parenteral feeding and pentosuria with ingestion of large amounts of fruit.
Fructosuria
84
May be seen during pregnancy and lactation.
Lactosuria
