disorders

Question 1

inherited errors of metabolism in w/c there is an enzyme defect or a defect in the membrane transport system of AA

Answer 1

AMINOACIDOPATHIES

Question 2

Inherited as an autosomal recessive trait

Answer 2

Phenylketonuria

Question 3

Enzyme absence in phenylketonuria

Answer 3

Phenylalanine hydroxylase

Question 4

Phenylalaline metabolites

Answer 4

Phenyl pyruvic acid
Phenyl pyruvate (phenylketone)
Phenyllactate acid

Question 5

High levels of phenylalanine and it’s metabolites can cause

Answer 5

BRAIN PROBLEMS

Question 6

Phenylketonuria can found in?

Answer 6

URINE and BLOOD

Question 7

URINE: Mousy Odor

Answer 7

Phenylketonuria

Question 8

Retarded mental development and with microcephaly

Answer 8

Phenylketonuria

Question 9

Is not a result of the lack of PAH enzyme.

Answer 9

Hyperphenylalaninemia

Question 10

The defect is the Deficiency in the enzymes needed for the regeneration and synthesis of tetrahydrobiopterin (BH4).

Answer 10

Hyperphenylalaninemia

Question 11

Results in elevated blood levels of phenylalanine and deficient production of neurotransmitters from tyrosine and tryptophan.

Answer 11

Hyperphenylalaninemia

Question 12

Must be identified so that APPROPRIATE treatment of the active cofactor along with the neurotransmitter precursors L-DOPA and 5-OH tryptophan can be initiated.

Answer 12

Hyperphenylalaninemia

Question 13

In phenylketonuria every STATE screens newborns from at about?

Answer 13

3 days of age

Question 14

allows early identification and implementation of treatment

Answer 14

Newborn Screening

Question 15

The goal of PKU treatment is to maintain the blood levels of phenlyalanine between

Answer 15

2 to 10 mg/dL.

Question 16

In phenylketonuria, avoid?

Answer 16

High protein foods

Question 17

In phenylketonuria, take?

Answer 17

Calculated amounts of cereals
Starches
Fruits
Vegetables
Milk substitute

Question 18

First drug to help manage PKU

Answer 18

KUVAN

Question 19

KUVAN in other term?

Answer 19

sapropterin dihydrochloride

Question 20

Help reduce phenylalanine levels by increasing the activity of the PAH enzyme

Answer 20

Phenylketonuria

Question 21

Test perform in phenylketonuria

Answer 21

Guthrie Test

Question 22

Semiquantitative, bacterial inhibition assay for phenylalanine that uses the ability of phenylalanine to facilitate bacterial growth in a culture medium with an inhibitor.

Answer 22

Guthrie Test

Question 23

is able to support bacterial growth but the B-2-thienylalanine inhibits bacterial growth

Answer 23

agar gel

Question 24

Replaced in many areas by newer techniques.

Answer 24

Guthrie Test

Question 25

Can detect a wider variety of congenital diseases

Answer 25

Tandem Mass Spectrometry, Gas Chromatography/Mass Spectrometry

Question 26

For the direct measurement of phenylalanine in dried blood filter disks.

Answer 26

Microfluorometric Assay

Question 27

Yields quantitative results due to infant not being at least 24 hours old

Answer 27

Microfluorometric Assay

Question 28

Reference method for quantitative serum phenylalanine

Answer 28

High Performance Liquid Chromatography

Question 29

Inborn metabolic disorder of tyrosine catabolism which is characterized by the excretion of tyrosine and tyrosine catabolites in urine.

Answer 29

Tyrosinemia

Question 30

Mos severe form of this aminoacidopathy.

Answer 30

Type I tyrosinemia

Question 31

Type I tyrosinemia is caused by low level of?

Answer 31

Fumarylacetoacetate hydrolase

Question 32

Failure to thrive, diarrhea, vomiting, jaundice, cabbage-like odor, distended abdomen, swelling of legs increased predisposition for bleeding

Answer 32

Type I tyrosinemia

Question 33

It can lead to liver and kidney failure, problems affecting the nervous system, and an increased risk of cirrhosis or liver cancer later in life.

Answer 33

Type I tyrosinemia

Question 34

Type II tyrosinemia is the deficiency of the enzyme

Answer 34

Tyrosine aminotransferase.

Question 35

Mental retardation, excessive tearing, photophobia, eye pain, redness ad painful skin lesions of palms and soles of feet

Answer 35

Type II tyrosinemia

Question 36

Type III tyrosinemia is the deficiency of the enzyme

Answer 36

4- hydroxyphenylpyruvate dioxygenase

Question 37

Mild mental retardation, seizures periodic loss of balance and coordination

Answer 37

Type III tyrosinemia

Question 38

prevents formation of maleylacetoacetic acid and fumarylacetoacetic acid w/c can be converted to succinyl acetone

Answer 38

Nitisone (NTBC)

Question 39

a toxin that damages liver and kidneys

Answer 39

succinyl acetone

Question 40

Inborn metabolic disease transmitted as an autosomal recessive gene.

Answer 40

Alkaptonuria

Question 41

Alkaptonuria lack of the enzyme

Answer 41

Homogentisate oxidase

Question 42

Urine turns BROWNISH-BLACK when it mixes w/ air.

Answer 42

Alkaptonuria

Question 43

HGA gradually accumulates in connective tissue, causing OCHRONOSIS (pigmentation of tissues), arthritis, dark spots on sclera, deposition of pigments in the cartilages of ear, nose and extremities.

Answer 43

Alkaptonuria

Question 44

When performing urinalysis, what substances is added to urine, it will turn black.

Answer 44

ferric chloride

Question 45

Treatment of alkaptonuria shown to decrease buildup of brown pigment in cartilages and slow the development of arthritis

Answer 45

High dose of vitamin C

Question 46

Maple Syrup Urine Disease (MSUD) results from an absence or greatly reduced activity of the enzyme branched-chain

Answer 46

a- ketoacid decarboxylase

Question 47

Has Maple Syrup or Burnt Sugar Odor of the urine, breath, and skin.

Answer 47

Maple Syrup Urine Disease (MSUD)

Question 48

The result of enzyme defect is accumulation of branched-chain AA and their corresponding ketoacids in the blood, urine and CSF.

Answer 48

Maple Syrup Urine Disease (MSUD)

Question 49

Seem normal at birth but will develop within a week LETHARGY, vomiting, lack of appetite and signs of failure to thrive.

Answer 49

Maple Syrup Urine Disease (MSUD)

Question 50

Maple Syrup Urine Disease (MSUD) test perform

Answer 50

Modified Gutrie test: B. subtilis and 4- azaleucine as inhibitor. Microfluormetric assay

Question 51

Isovaleric Acidemia an autosomal recessive metabolic disorder from a deficiency of the enzyme

Answer 51

Isovaleryl-CoA dehydrogenase

Question 52

Sweaty Feet Odor

Answer 52

Isovaleric Acidemia

Question 53

SYMPTOMS: Apparent after few days of birth Failure to thrive Vomiting Lethargy seizure Coma and Death Some people are asymptomatic

Answer 53

Isovaleric Acidemia

Question 54

Isovaleric Acidemia test perform

Answer 54

Chromatography. MS/MS

Question 55

Isovaleric Acidemia Laboratory results reveal

Answer 55

Metabolic acidosis Mild to moderate ketonuria Hyperammonemia Thrombocytopenia- low platelets Neutropenia

Question 56

Homocystinuria is an inherited autosomal recessive disorder of amino acid metabolism that lack of the enzyme

Answer 56

Cystathionine-B synthetase

Question 57

Osteoporosis Dislocated lenses in the eye resulting from lack of cysteine synthesis and mental retardation. Multisystemic disorders of the connective tissue, muscles, CNS and bone. Thrombosis resulting from toxicity of homocysteine to the vascular endothelium is it goes untreated.

Answer 57

Homocystinuria

Question 58

Dietary restriction of methionine as well as high doses of vitamin B6.

Answer 58

Homocystinuria

Question 59

Trimethylglycine w/ folic acid

Answer 59

Homocystinuria

Question 60

Test in homocystinuria

Answer 60

Neonatal Screening: Guthrie test w/ L-methionine sulfoximine High-Performance liquid Chromatography as confirmatory test: methionine level > than mg/dL. LC-MS/MS to test for urinary total homocysteine.

Question 61

Inherited in an autosomal recessive pattern. Belongs to a class of genetic diseases called urea cycle disorders.

Answer 61

Citrullinemia

Question 62

Type I Citrullinemia metabolic defect caused by the lack of the enzyme

Answer 62

Argininosuccinic acid synthetase

Question 63

Lack of appetite Failure to thrive Vomiting Lethargy Seizure Coma and Death.

Answer 63

Type I Citrullinemia

Question 64

Caused by a mutation of the gene that would otherwise provide instructions for making the protein citrin.

Answer 64

Type II Citrullinemia

Question 65

TREATMENT of Type II Citrullinemia

Answer 65

High-caloric, Protein-restrictive diet Arginine supplementation Sodium benzoate Sodium phenylacetate

Question 66

Argininosuccinic Aciduria (ASA) is inherited in an autosomal recessive pattern that also belongs to a class of genetic diseases, the urea cycle disorders lack the enzyme

Answer 66

arginosuccinic lyase

Question 67

Argininosuccinic Aciduria (ASA) treatment

Answer 67

High-calorie. Protein-restrictive diet; Arginine supplementation. Administration of Sodium benzoate and Sodium phenylacetate

Question 68

Inherited autosomal recessive defect. Caused by a defect in the amino acid transport system rather than a metabolic enzyme deficiency.

Answer 68

Cystinuria

Question 69

SYMPTOMS: Hematuria Pain in the side due to kidney pain UTI

Answer 69

Cystinuria

Question 70

produces a red-purple color on reaction w/ sulhydryl groups

Answer 70

cyanide nitroprusside

Question 71

to remove the kidney stone

Answer 71

Percutaneous nephrolithotripsy