NLST (finals) - MSUD

Maple Syrup Urine Disease

MSUD stands for?

MSUD

A rare inherited metabolic disorder in which the body cannot properly break down the branched-chain amino acids (BCAAs)

Leucine, Isoleucine, Valine

BCAAs to avoid, it leads to toxic accumulation in the blood and brain

Classic

MSUD type where it is severe, early onset

Intermediate

MSUD type that is a moderate form of MSUD, and is less severe

Intermittent

MSUD type that manifests symptoms during stress/illness

Thiamine-responsive

MSUD type that improves with VIT B1

BCKD

What enzyme complex breaks down BCAAs during metabolism?

Branched-Chain alpha Ketoacid Dehydrogenase

BCKD stands for?

BCAAs accumulate

What happens when there is a deficiency in BCKD enzyme?

Leucine

Most dangerous amino acid because of HIGH NEUROTOXICITY?

Cerebral Edema

what is swelling of the brain called?

Effects

- Autosomal Recessive Disorder

- Mutations affecting BCKD complex

- They are detected through NEWBORN SCREENING

First week of life

Clinical manifestations of Classic MSUD which is the most severe

- poor feeding

- vomiting

- lethargy

- hypotonia/hypertonia

- seizures

when do they manifest?

Maple syrup/burned sugar

Urine smells like?

Coma, Death, Neurological damage

If MSUD is intreated, it may lead to?

Ketoacids

Other than elevated levels of leucine, isoleucine and valine, what is another presence that is seen in the urine to diagnose a patient with MSUD?

Natural protein

We should limit the intake of BCAAs by restricting?

BCAA-free amino acid formula

Milk formula for MSUD patients, this serves as the main protein source

Strictly limited

Leucine is ___ intake

Toxicity

Balance is critical because too much can cause?

Deficiency and poor growth

Balance is critical because too little can cause?

Catabolism

High energy intake is essential because it prevents?

100-150kcal/kg/day

Energy requirement for infants?

Iron, Zinc, Calcium, Vit D

Micronutrients to monitor in a MSUD patient?

Glucose

During a metabolic crisis, increase CHO intake, specifically?

Temporarily stop

Reduce or ___ natural protein during a metabolic crisis

IV glucose, Insulin, Dialysis

Medical management in in severe MSUD cases? Specifically during a metabolic crisis?

Complications

- Brain Damage

- Developmental delay

- Seizures

- Coma and death