Metabolic syndromes

Question 1

Ones that present shortly after birth How does it present?

Answer 1

AA metabolism: Organic aciduria, MSUD( maple syrup)

Urea cycle: UC deficit

Galactoseamia Term baby, high apgar score–> few hours or days–> newborn crash with V+, problems feeding–> hypotonia–>breathing problems–>lethargy /seizure–>death

Question 2

Which can present at any age? How does it present?

Answer 2

PKU, homocysteinuria,

Presents with neurological deterioration- mental retardation, FTT, seizures, encephalopathy +rash (exema) +fair skin and hair +musty odour urine

Question 3

Which present with acute deterioration? How does it present?

Answer 3

MCADD

Presents with sudden acute deterioration (post stress, infection, vaccination,..) –>catabolism with acute liver failure/hypoglycemia–>death

Question 4

PKU pathophysiology TT

Answer 4

Lack of Penylanaline hydroxylase–> accumulation of PA Diet without PA + monitoring of blood levels Good prognosis if neonatal screening, if not damage is irreversible

Question 5

MCADD TT

Answer 5

Defect of medium-chain fatty acid oxidation -Unsymptomatic (often long) interval -remember SUDDEN ACUTE  catabolic decompensation (i.e. vomiting)  rapid and severe general deterioration with hypoketotic hypoglycemia (no energy substrate for brain!) and acute liver failure (Reye-like)  25% of first episodes result in death!!! Sometimes in form of recurrent metabolic crisis Since 2014  present in newborn screening panel TT: avoid metabolic crisis ie never any fasting, if ever vaccinated should hospitalise and give glucose to prevent hypoglycemia, avoid medium chain triglycerides in diet (coconut oil, egg,…)

Question 6

MSUD presents with

Answer 6

maple syrup smelling urine + few days after birth –>V+, poor feeding, hypotonia, hypoglycemia!

Question 7

Galactossemia pathophys and presents with ? TT

Answer 7

-deficiency of the enzyme galactose-1-phosphate uridyltransferase, which is essential for galactose metabolism. -When lactose-containing milk feeds such as breast or infant formula are introduced, affected infants feed poorly, vomit and develop jaundice and hepatomegaly and hepatic failure -Chronic liver disease, cataracts and developmental delay are inevitable if the condition is untreated. -Management is with a lactose and galactose-free diet for life. Even if treated early, there are usually moderate learning difficulties (adult IQ 60–80).

Question 8

Mitochondrial- check what?

Answer 8

histo-path of muscles :ragged blue/red fibres