Name that Disorder
This amino acidopathy is treated with a low-protein diet and phenylalanine-free formula to prevent intellectual disability
What is PKU
PKU is caused by a defect in this enzyme
What is phenylalanine hydroxylase
The main treatment goal for MOST inborn errors of metabolism is restriction of this macronutrient
What is protein
In metabolic disorders, catabolism leads to the release of this nitrogenous waste product, which can accumulate dangerously.
What is ammonia
This type of fromula is essential for managing PKU
What is phenylalanine free formula
This disorder results in sweet smelling uring due to defective branched chain ketoacid dehydrogenase
What is Maple Syrup Urine Disease
MSUD results from a defect in the metabolism of these three amino acids
What are leucine, isoleucine, and valine
For fatty acid oxidation disorders, it is crucial to avoid...
What is fasting
This IV solution should be used for patients in metabolic crisis due to urea cycle disorders
What is D10 at 1.5 maintenance
This formula is methionine-free and designed for infants with homocystinuria.
What is HCU Anamix Early Years
A deficiency in any of the urea cycle enzymes can cause hyperammonemia and encephalopathy.
What is a Urea Cycle Disorder
Urea cycle disorder lead to an accumulation of this waste product
What is ammonia
When calculating total protein intake for a metabolic patient, these three sources must be considered.
What are natural protein, metabolic formula, and specialty amino acid IV solutions?
In a patient with an organic acidemia presenting with severe metabolic acidosis, this intervention may be necessary to rapidly reduce toxic metabolites.
What is dialysis
This modular formula is ideal for increasing calories without adding protein.
What is duocal or polycal
This disorder of fatty acid oxidation present with hypoglycemia, hepatomegaly, and inabilithy to utilize fat for energy, especially during fasting
What is Medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency?
Fatty acid oxidation disorders prevent the body from efficiently using these molecules for energy.
What are long-chain fatty acids
For patients with MMA or PA in crisis, this specific IV solution is used to provide essential amino acids
What is Propiogenic-Free Amino Solution
In patients with MMA/PA in crisis, this supplement is crucial to secondary deficiency and remove toxic metabolites.
What is L-Carnitine
For patients with methylmalonic or propionic acidemia, this formula is specifically designed to be low in methionine, threonine, and valine.
What is MMA/PA Anamix Early Years or MMA/PA Maxamum
This disorder causes episodes of metabolic decompensation triggered by fasting, leading to metabolic acidosis and hyperammonemia
What is propionic acidemia or methylmalonic acidemia
Patients with MSUD lack the ability to decarboxylate these intermediates, leading to accumulation of toxic metabolites
What are branched-chain α-ketoacids
Patients with propionic acidemia requires restricition of these specific amino acids to prevent metabolic decompensation
What are valine, isoleucine, methionine, and threonine
A patient with an organic aceidemia is admitted with vomiting, lethargy, and metabolic acidosis. Which biochemical markers shoyuld be assessed immediately to guide treatment?
What are ammonia, lactate, ketones, anion gap, and urine organic acids
In MSUD, why is maintaining an appropriate ratio of isoleucine and valine to leucine important?
Leucine can inhibit transport of isoleucine and valine into the brain, leading to deficiency and worsening metabolic imbalance