WEEK 3: METABOLICS EXAMS WITH 100%
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Metabolism correct answers
series of chemical reactions that convert food into energy
Breaks down: (body hierarchy of energy burning)
- Carbohydrates into simple sugars
- Fats into Fatty acids
- Proteins into amino acids
Main product paths correct answers
Amnio acids become proteins
fatty acids become lipids
sugar residues become carbs
nucelobases become DNA/RNA
Inborn Error of Metabolism correct answers
the concept advanced by Archibald Garrod (Garrod's hypothesis) that
many genetic traits result from alterations in biochemical pathways
Causes: PVs in genes coding for enzymes, transporter protein, other
other factor involved in metabolic process
Effects: toxic accumulation of substrates before the block, production of
,WEEK 3: METABOLICS EXAMS WITH 100%
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toxic intermediates from an alternate pathway, deficiency of products
beyond the block, combo of above
Amino Acids correct answers
Building blocks of proteins
Protein functions:
1. facilitate enzymatic reactions
2. help support cell structure
3. "workhorse" of the cell
Proteins are doers
Amino Acidemias correct answers
Disruption in the ability to form or break down different amino acids
leads to increased formation of toxic byproducts and a lack of necessary
items for the cell to function
general features: high levels of amino acids in the blood
- Onset in first months of life
- Seizures, lethargy, poor feeding, vomiting, ID/DD
Phenylketonuira (PKU) correct answers
,WEEK 3: METABOLICS EXAMS WITH 100%
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Gene/Enzyme: PAH - Phenylalanine Hydroxylase
Inheritance: AR
Age of onset: around 6 months (most severe/untreated)
Gen pop freq.: 1/65
Testing:
NBS Analyte: Increased Phenylalanine (Phe)
Biochemical (Dx): Plasma amino acids with elevated Phe/Tyrosine ratio
Genetics: Sequencing and del/dup (most pts are compound
heterozygotes)
Features:
- Seizures, ID, microcephaly, behavioral problems, psychiatric disorders,
lighter skin/hair (downstream impact to melanin), skin
disorders, musty/mouse-like smell
Management:
- Restricted protein died
- Medications: Cofactor for Phe (Kuvan), PAH ERT (Palynziq) - adults only
Maternal PKU Syndrome correct answers
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Mom has poor dietary control during pregnancy
Fetus can be at risk for: ID/DD, heart defects, microcephaly
Tyrosinemia Type 1 correct answers
Board Trigger: metabolic geneticist + pediatric oncologist together (liver
cancer risk, rickets, liver/kd
Gene/Enzyme: FAH (Fumarylacetonacetate hydrolase)
Inheritance: AR
Testing:
- NBS analyte: Increased Succinylacetone
- Dx: Biochemical: Increased plasma Tyr, met (due to build up of SA in
liver), phe. See increased urinary tyrosine and alanine
- genetics: sequence, one reported a large deletion
Features: Cabbage-like odor, liver/kidney failure, rickets, increased risk
for liver cancer, FTT/Nausea/vomiting, jaundice
-Repeated neurological crises in some (changes in mental state,
peripheral neuropathy, abd pain, respiratory failure (last 1-7 days)
Management:
- Low protein diet
CORRECT VERIFIED ANSWERS LATEST
DOWNLOADED 2025/2026 BEST GRADED A+
FOR SUCCESS
Metabolism correct answers
series of chemical reactions that convert food into energy
Breaks down: (body hierarchy of energy burning)
- Carbohydrates into simple sugars
- Fats into Fatty acids
- Proteins into amino acids
Main product paths correct answers
Amnio acids become proteins
fatty acids become lipids
sugar residues become carbs
nucelobases become DNA/RNA
Inborn Error of Metabolism correct answers
the concept advanced by Archibald Garrod (Garrod's hypothesis) that
many genetic traits result from alterations in biochemical pathways
Causes: PVs in genes coding for enzymes, transporter protein, other
other factor involved in metabolic process
Effects: toxic accumulation of substrates before the block, production of
,WEEK 3: METABOLICS EXAMS WITH 100%
CORRECT VERIFIED ANSWERS LATEST
DOWNLOADED 2025/2026 BEST GRADED A+
FOR SUCCESS
toxic intermediates from an alternate pathway, deficiency of products
beyond the block, combo of above
Amino Acids correct answers
Building blocks of proteins
Protein functions:
1. facilitate enzymatic reactions
2. help support cell structure
3. "workhorse" of the cell
Proteins are doers
Amino Acidemias correct answers
Disruption in the ability to form or break down different amino acids
leads to increased formation of toxic byproducts and a lack of necessary
items for the cell to function
general features: high levels of amino acids in the blood
- Onset in first months of life
- Seizures, lethargy, poor feeding, vomiting, ID/DD
Phenylketonuira (PKU) correct answers
,WEEK 3: METABOLICS EXAMS WITH 100%
CORRECT VERIFIED ANSWERS LATEST
DOWNLOADED 2025/2026 BEST GRADED A+
FOR SUCCESS
Gene/Enzyme: PAH - Phenylalanine Hydroxylase
Inheritance: AR
Age of onset: around 6 months (most severe/untreated)
Gen pop freq.: 1/65
Testing:
NBS Analyte: Increased Phenylalanine (Phe)
Biochemical (Dx): Plasma amino acids with elevated Phe/Tyrosine ratio
Genetics: Sequencing and del/dup (most pts are compound
heterozygotes)
Features:
- Seizures, ID, microcephaly, behavioral problems, psychiatric disorders,
lighter skin/hair (downstream impact to melanin), skin
disorders, musty/mouse-like smell
Management:
- Restricted protein died
- Medications: Cofactor for Phe (Kuvan), PAH ERT (Palynziq) - adults only
Maternal PKU Syndrome correct answers
, WEEK 3: METABOLICS EXAMS WITH 100%
CORRECT VERIFIED ANSWERS LATEST
DOWNLOADED 2025/2026 BEST GRADED A+
FOR SUCCESS
Mom has poor dietary control during pregnancy
Fetus can be at risk for: ID/DD, heart defects, microcephaly
Tyrosinemia Type 1 correct answers
Board Trigger: metabolic geneticist + pediatric oncologist together (liver
cancer risk, rickets, liver/kd
Gene/Enzyme: FAH (Fumarylacetonacetate hydrolase)
Inheritance: AR
Testing:
- NBS analyte: Increased Succinylacetone
- Dx: Biochemical: Increased plasma Tyr, met (due to build up of SA in
liver), phe. See increased urinary tyrosine and alanine
- genetics: sequence, one reported a large deletion
Features: Cabbage-like odor, liver/kidney failure, rickets, increased risk
for liver cancer, FTT/Nausea/vomiting, jaundice
-Repeated neurological crises in some (changes in mental state,
peripheral neuropathy, abd pain, respiratory failure (last 1-7 days)
Management:
- Low protein diet
