37 Questions
What is the recommended course of action for patients with MSUD for 24-72 hours?
Restrict protein intake
What is the mode of inheritance of MSUD?
Autosomal recessive
What is the purpose of liver transplants in older MSUD patients?
To provide the deficient enzyme
What is the significance of early diagnosis and proper treatment in MSUD?
It is compatible with life
What is the name of the disease discussed in Case 3?
Glucose-6-Phosphate Dehydrogenase Deficiency
What was the result of the routine newborn screening for the baby boy in Case 3?
Positive for G6PD deficiency
At what age did the baby boy in Case 3 develop pallor after a systemic viral infection?
4 months
What is the main enzyme that catalyzes the decarboxylation of branched-chain keto acids?
Branched-chain keto acid dehydrogenase complex
What is a characteristic feature of the classic phenotype of MSUD?
Poor growth, poor feeding, and irritability
What is the function of E2 in the branched-chain keto acid dehydrogenase complex?
Dihydrolipoamide transacylase
What is the role of thiamine pyrophosphate in the branched-chain keto acid dehydrogenase complex?
It acts as a cofactor
What is the name of the gene that encodes the E1-α subunit of the branched-chain keto acid dehydrogenase complex?
BCKDHA
What is the characteristic odor of cerumen in MSUD patients?
Maple syrup odor
What is the name of the complex that catalyzes the decarboxylation of branched-chain keto acids?
Branched-chain keto acid dehydrogenase complex
What is the purpose of Agnes Alarilla-Alba's discovery?
To bypass the OTC enzyme in the Crea Cycle
What is the benefit of citrulline supplementation?
It increases nitrogen clearance via aspartate integration and urea creation
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
What is the method used for newborn screening?
A heel prick blood test
What is the importance of early detection and intervention in newborns?
It prevents death or disability and enables children to reach their full potential
What is the primary goal of newborn screening?
To detect metabolic disorders
Who emphasizes the importance of early detection and intervention in newborns?
The Centers for Disease Control and Prevention (CDC)
What is the main function of the TYR gene?
Producing melanin in melanocytes
What is the primary location of the TYR gene?
Melanocytes
What type of albinism is caused by variants in the TYR gene?
OCA Type 1
What protein is produced by the OCA2 gene?
P protein
Where is the OCA2 gene primarily located?
Melanocytes
What type of albinism is caused by variants in the OCA2 gene?
OCA Type 2
What is the characteristic of OCA Type 1 albinism?
White hair, pale skin, and light-colored irises
What is the severity of OCA Type 1 albinism?
Severe
What is the relationship between OCA Type 1 and OCA Type 2?
OCA Type 1 is more severe than OCA Type 2
What is the benefit of newborn screening in detecting Inborn Errors of Metabolism (IEMs)?
To allow for the early diagnosis of metabolic abnormalities
What is the outcome for most individuals with Organic Acid Disorder if not screened and managed?
Neurologic damage and early death
Why are males more likely to be affected by G6PD deficiency?
Because they have only one X chromosome
What is the outcome for individuals with Hemoglobinopathies if not screened and managed?
Painful crises and stroke
What is the benefit of prompt intervention in IEMs?
To avoid the negative effects associated with untreated conditions
What is the outcome for individuals with Urea Cycle Defect if not screened and managed?
Mental retardation, seizures, and death
What is the importance of newborn screening in detecting IEMs?
To enable prompt intervention and improve health outcomes
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