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Exam 2 - Metabolic disorders Flashcards

Metabolic disorders (88 cards)

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1
Q

over ___ different metabolic disorders identified

A

350

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2
Q

Metabolic disorders are often inherited as:

A

Autosomal recessive

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3
Q

Newborn screening using _____ is the most commonly used population based screening method for ___________

A

blood spots

metabolic disorders

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4
Q

Different catergories of metabolic disorders:

A 
Carbohydrate
Amino Acid
Lipid
Urea cycle
Heavy metal transport
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5
Q

Amino acid disorders

A

Phenylketonuria

Maple syrup urine disease

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6
Q

Carbohydrate Disorder

A

Galactosemia

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7
Q

Urea Cycle Disorder

A

Ornithine transcarbamylase deficiency

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8
Q

Heavy Metal Transport Defects

A

hemochromatosis
Cystinuria
Menkes and Wilson diseases

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9
Q

Lipid Disorders

A

Smith-Lemli-Opitz syndrome
MCAD, LCHAD
Zellweger syndrome
Lysosomal Storage disorders

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10
Q

PKU

A

Phenylketonuria

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11
Q

PKU key clinical problems:

A

intellectual deficits, seizures, developmental delay, microcephaly, heart defects

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12
Q

PKU inheritance pattern

A

Autosomal recessive

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13
Q

Cause of PKU disease:

A

Lack of phenylalanine hydroxylase leads to build up of Phenylpyruvic acid

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14
Q

The amount of ______ and ______ eaten increases with age as the need for ____&____ increases.

A

no-protein medical foods
low-protein medical foods
energy and protein

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15
Q

What is Aspartame?

A

artificial sweetener

Aspartame is 50% phenylalanine

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16
Q

High levels of phenylalanine is _____ for a normal patient, but is especially harmful for ______

A

neurotoxic

PKU patients

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17
Q

Even in non-PKU patients, high levels of phenylalanine is harmful to ____ during _____

A

fetus
pregnancy
**cautious intake of this sweetener

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18
Q

MSUD

A

Maple Syrup Urine Disease

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19
Q

MSUD is a _______ disorder

A

Branched-chain amino acid

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20
Q

MSUD common among the _______ of Lancaster County, PA

A

Mennonite population

~1 in 7 is a carrier

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21
Q

MSUD key clinical symptoms

A

Poor feeding
Lethargy
Maple syrup smell

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22
Q

MSUD inheritance pattern

A

Autosomal recessive

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23
Q

MSUD Mutation:

A

mutation in the E1α geneone of 6 genes comprising the enzyme called branched-chain α -ketoacid dehydrogenase (BCKAD)

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24
Q

Cause of MSUD disease:

A

DefectiveenzymeBCKAD leads to accumulation ofBCAAs and their ketoacids, which leads to neurodegeneration and death within a few months after birth

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25
What are the branched chain amino acids:
valine, leucine and isoleucine
26
BCAAS used as what:
energy sources through an oxidative pathway that uses an α -ketoacid as an intermediate.
27
______ of α -ketoacids is mediated by the ______ enzyme
Decarboxylation | branched-chain α -ketoacid dehydrogenase (BCKAD)
28
Treatment of MSUD
Dietary restriction of BCAAs. Even with treatment, episodic deterioration is common.
29
New Born Screening (NBS) is available to:
All infants in US shortly after birth
30
How is the sample collected:
Blood sample collected from heel prick
31
NBS screens for:
77 different genetic diseases
32
Samples are analyzed using:
Tandem mass spectrometry
33
2 step process:
1) Screening - indicates a problem MAY be present 2) Diagnostic test - confirms or dismisses whether disease is truly present
34
Many _____ screening results have _____ follow-up testing
Abnormal | Normal
35
Causes for NBS screening to indicate abnormal results:
Blood drawn too early | Baby is premature
36
Screening criteria:
``` Disease is serious Disease undetected by exam Incidence supports screening Well established confirmative testing Effective treatments exist Earlier treatment is better Diagnosis and treatment are available Screening is cost effective ```
37
MS/MS tests for:
Tandem Mass Spectrometry | AA, organic acid and fatty acid oxidation disorders
38
Prior to MS/MS:
one test per genetic disorder paradigm
39
MS/MS reduces __________ rate for ____
False positive | AA disorders
40
MS/MS measures _______ simultaneously in ______
multiple compounds | single analysis
41
FELSI
Financial, Ethical, Legal and Social Issues
42
Financial issues:
increased cost of testing and who is to pay for follow-up testing (which can cost thousands of dollars)
43
Ethical issues:
include testing for untreatable disorders and storage of testing samples
44
Social issues:
issue of "informed consent." Since newborn screening tests are required by law, they traditionally have not required an active informed consent process - i.e. signing document.
45
Newest technology:
Whole Exome sequencing and whole genome sequencing
46
Galactosemia key clinical problems:
causes intellectual disability, damage to liver, kidneys, eyes
47
Galactosemia inheritance pattern:
Autosomal recessive
48
Cause of galactosemia disorder:
Inability to break down galactose leads to accumulation of galactose derivatives
49
Most common enzymatic abnormality in galactosemia
GAL-1-P uridyl transferase
50
Least common enzymatic abnormalities in galactosemia
UDP-galactose 4-epimerase, galactokinase
51
Lactose poses what issue to infants with galactosemia
Lactose is made up of galactose and glucose which is present in breast and cows milk
52
Treatment of galactosemia:
Cannot eat other galactose-containing foods (e.g. garbanzo beans, milk chocolate) Use lactose-free infant formula
53
(1) hyperglycemia (diabetes mellitus), (2) Von Gierke disease, (3) fructosuria, (4) hereditary fructose intolerance, (5) Cori disease, (6) Anderson disease, (7) Tarui disease, and (8) FBPase deficiency
Enzymatic defects in glucose, fructose, and glycogen metabolism pathways cause these diseases
54
Neonatal diabetes
glucokinase defect | Causes permanent neonatal diabetes
55
A1C blood test:
estimates glucose levels in blood for previous 3 months
56
Smith-lemli-opitz key clinical problems:
congenital anomalies of the brain, heart, genitalia, and hands
57
Smith-lemli-opitz cause of disease:
Patients have reduced levels of cholesterol due to △7-sterol reductase defect mediating the final step in the synthesis of cholesterol
58
Smith-lemli-opitz inheritance pattern:
Autosomal recessive
59
MCAD
Medium-chain acyl-coenzyme A dehyrdrogenase
60
MCAD key clinical problems:
Vomiting, lethargy, hypoglycemia (low blood sugar) – most frequent following fasting/diminished food intake
61
MCAD inheritance pattern:
Autosomal recessive
62
MCAD cause of disease:
Mutations in the ACADM gene, which makes MCAD. MCAD normally breaks down medium-chain fatty acids. MCAD deficiency causes accumulation of fatty acid intermediates and failure to produce ketones to produce energy.
63
MCAD is the most common:
Inborn error of fatty acid metabolism
64
Treatment of MCAD:
adequate intake of calories at all times, and avoid fasting
65
In MCAD patients death results unless:
Immediate energy source (ex: glucose) provided
66
NBS for MCAD:
includes testing for a panel of acylcarnitines by TMS
67
Most severe fatty acid oxidation disorders:
LCHAD
68
Features of LCHAD:
cardiomyopathy, skeletal myopathy, retinal disease, peripheral neuropathy, sudden death
69
abnormal or absence of peroxisomes (harbor enzymes that rid the cell of toxic substances in liver, kidney, brain)
Zellweger syndrome
70
Zellweger syndrome features:
enlarged liver, facial deformities, intellectual disabilities, seizures
71
_______ results in high levels of iron and copper build up in blood and organs
Zellweger syndrome
72
Lysosomal storage disease:
Tay Sachs
73
Tay Sachs clinical problems:
Hypotonia, spasticity, seizures, blindness
74
Tay Sachs inheritance pattern:
Autosomal recessive
75
Cause of the Tay Sachs disease:
Mutation in B-Hexosaminidase leads to build up of gangliosides in nerve cells in the brain, destroying brain cells
76
Primary roles of Urea cycle:
1) prevent accumulation of nitrogenous wastes by incorporating nitrogen into urea; eventually excreted by the kidneys 2) synthesis of arginine
77
Problem in the _______ can lead to accumulation of ___________ and leads to liver failure.
urea cycle | ammonia (a nitrogenous waste)
78
OTC clinical problems:
progressive neurological impairment and death if untreated
79
OTC inheritance pattern:
X-linked recessive
80
Cause of OTC:
Ornithine transcarbamylase deficiency leads to leads to accumulation of urea precursors
81
Most common urea cycle disorder:
OTC
82
Cystinuria and cystinosis
abnormal cystine transport
83
Hereditary Hemochromatosis
abnormal iron transport
84
Hemochromatosis inheritance pattern
autosomal recessive
85
Hemochromatosis clinical problems
fatigue, joint pain, diabetes, increased skin pigmentation, cardiomyopathy, liver enlargement, cirrhosis.
86
cause of Hemochromatosis
Excess iron absorbed in small intestine. Accumulates in organs: liver, kidney, heart, joints, pancreas.
87
Hemochromatosis gene product normally binds to ________. Normally inhibits ______ iron uptake.
``` transferrin receptor (transferrin carries iron) transferrin mediated ```
88
Problems with Jessie Gelsinger case (gene therapy to treat OTC):
May have not been informed of death in primates Did not give truly informed consent Jesse was not eligible to be included due to high level of ammonia Conflict of interest may exist between researchers ability to protect financial interests Many adverse effects in gene therapy have not been reported to the RCA Some pt deaths may have been wrongly ascribed to underlying disease rather than trials

Medical Genetics (12 decks)

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