Biochemistry LE 6: Inborn Errors of Metabolism

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What is the recommended course of action for patients with MSUD for 24-72 hours?

Restrict protein intake (correct)

Restrict carbohydrate intake

Increase protein intake

Increase fat intake

What is the mode of inheritance of MSUD?

Mitochondrial inheritance

Autosomal dominant

X-linked recessive

Autosomal recessive (correct)

What is the purpose of liver transplants in older MSUD patients?

To provide the deficient enzyme (correct)

To reduce oxidative stress

To remove the deficient enzyme

To remove excess protein

What is the significance of early diagnosis and proper treatment in MSUD?

It is compatible with life Signup and view all the answers

What is the name of the disease discussed in Case 3?

Glucose-6-Phosphate Dehydrogenase Deficiency Signup and view all the answers

What was the result of the routine newborn screening for the baby boy in Case 3?

Positive for G6PD deficiency Signup and view all the answers

At what age did the baby boy in Case 3 develop pallor after a systemic viral infection?

4 months Signup and view all the answers

What is the main enzyme that catalyzes the decarboxylation of branched-chain keto acids?

Branched-chain keto acid dehydrogenase complex Signup and view all the answers

What is a characteristic feature of the classic phenotype of MSUD?

Poor growth, poor feeding, and irritability Signup and view all the answers

What is the function of E2 in the branched-chain keto acid dehydrogenase complex?

Dihydrolipoamide transacylase Signup and view all the answers

What is the role of thiamine pyrophosphate in the branched-chain keto acid dehydrogenase complex?

It acts as a cofactor Signup and view all the answers

What is the name of the gene that encodes the E1-α subunit of the branched-chain keto acid dehydrogenase complex?

BCKDHA Signup and view all the answers

What is the characteristic odor of cerumen in MSUD patients?

Maple syrup odor Signup and view all the answers

What is the name of the complex that catalyzes the decarboxylation of branched-chain keto acids?

Branched-chain keto acid dehydrogenase complex Signup and view all the answers

What is the purpose of Agnes Alarilla-Alba's discovery?

To bypass the OTC enzyme in the Crea Cycle Signup and view all the answers

What is the benefit of citrulline supplementation?

It increases nitrogen clearance via aspartate integration and urea creation Signup and view all the answers

What is the purpose of Republic Act No. 9288 or the Newborn Screening Act of 2004?

To ensure all newborns undergo screening within the first 24-48 hours after birth Signup and view all the answers

What is the method used for newborn screening?

A heel prick blood test Signup and view all the answers

What is the importance of early detection and intervention in newborns?

It prevents death or disability and enables children to reach their full potential Signup and view all the answers

What is the primary goal of newborn screening?

To detect metabolic disorders Signup and view all the answers

Who emphasizes the importance of early detection and intervention in newborns?

The Centers for Disease Control and Prevention (CDC) Signup and view all the answers

What is the main function of the TYR gene?

Producing melanin in melanocytes Signup and view all the answers

What is the primary location of the TYR gene?

Melanocytes Signup and view all the answers

What type of albinism is caused by variants in the TYR gene?

OCA Type 1 Signup and view all the answers

What protein is produced by the OCA2 gene?

P protein Signup and view all the answers

Where is the OCA2 gene primarily located?

Melanocytes Signup and view all the answers

What type of albinism is caused by variants in the OCA2 gene?

OCA Type 2 Signup and view all the answers

What is the characteristic of OCA Type 1 albinism?

White hair, pale skin, and light-colored irises Signup and view all the answers

What is the severity of OCA Type 1 albinism?

Severe Signup and view all the answers

What is the relationship between OCA Type 1 and OCA Type 2?

OCA Type 1 is more severe than OCA Type 2 Signup and view all the answers

What is the benefit of newborn screening in detecting Inborn Errors of Metabolism (IEMs)?

To allow for the early diagnosis of metabolic abnormalities Signup and view all the answers

What is the outcome for most individuals with Organic Acid Disorder if not screened and managed?

Neurologic damage and early death Signup and view all the answers

Why are males more likely to be affected by G6PD deficiency?

Because they have only one X chromosome Signup and view all the answers

What is the outcome for individuals with Hemoglobinopathies if not screened and managed?

Painful crises and stroke Signup and view all the answers

What is the benefit of prompt intervention in IEMs?

To avoid the negative effects associated with untreated conditions Signup and view all the answers

What is the outcome for individuals with Urea Cycle Defect if not screened and managed?

Mental retardation, seizures, and death Signup and view all the answers

What is the importance of newborn screening in detecting IEMs?

To enable prompt intervention and improve health outcomes Signup and view all the answers