Inborn errors of metabolism Flashcards
What disorders can cause newborn hypoglycemia?
- Glycogen storage diseases
- Galactosemia
- Hereditary fructose intolerance
- Organic acidemias
- Disorders of fatty acid metabolism
What glycogen diseases have no hypoglycemia and only affect muscles?
- McArdle’s disease (type V)
- Pompe’s disease (type II)
What glycogen storage diseases have hypoglycemi?
- Von Gierke’s disease (type I)
- Cori’s disease (type III)
What organ will be enlarged in glycogen storage diseases?
Liver
Hepatomegaly
What enzyme is deficient in Hereditary Fructose Intolerance?
Aldolase B
Reducing sugars in the urine?
fructose or galactose
- HFI
- Classic galactosemia
When will classic galctosemia present?
1st few days of life
What disorders are linked with hypoglycemia. lactic acidosis and ketosis after fasting?
Glycogen storage diseases
What are amino acids, cholesterol and odd chain fatty acids converted to and what are they subsequently converted to in order to reach the TCA cycle?
Propionyl-CoA
- > Methylmalonyl-CoA (requires B7)
- > Succinyl-CoA (B12)
What do organic acidemias present with?
- Poor feeding
- Vomiting
- Hypotonia, lethargy
- Hypoglycemia
- Ketosis
- Hyperammonemia
- Elevated urine/plasma organic acids
What are the 2 types of organic acidemias?
- Propionic acidemia (Proiponyl-CoA carboxylase )
High levels of propionic acid - Methylmalonic acidemia (methylmalonyl-CoA mutase)
High levels of MMA
Maple Syrup urine disease is due to a deficiency in what enzyme?
a-ketoacid dehydrogenase
- amino acids and a-ketoacids found in plasma and urine - sweet smell
Orotic aciduria features?
Megaloblastic anemia
- Seizures
- Normal ammonia levels
OTC deficiecy has what defining feauture to deifferentiate it from orotic aciduria?
High ammonia
What are the important featres of mitochondrial disorders?
- High Alanine
- Lactic acidosis
- Hypoglycemia
