Inborn Error Of Metabolism

Question 1

PKU

Answer 1

Phenylalanine hydroxylase defect (98%), preventing conversion of phenylalanine to tyrosine

Clinical: normal at birth–> musty odour, eczema, hypertonia, tremors and MR, may be hypopigmented
Treatment: dietary restriction

Question 2

Homocysteinuria

Answer 2

Cystathione beta synthease def with accumulation of homocysteine
Clinical: developmental delay, MR, seizure, ectopic lentils, pas cavus
Treatment: pyridoxine + low methionine diet

Question 3

Galactosemia

Answer 3

Galactose -1-phosphate uridyltransferase causing inability to process galactose –> inc galactose-1-phosphate toxicity AR

Clinical: normal at birth, then vomiting, acidosis, jaundice, hepatomegaly (chronic liver disease), cataracts and developmental delay
Treatment: galactose free diet,
Is a part of screening program

Question 4

Fructosemia

Answer 4

Aldolase b deficiency
Normal at birth–> vomiting, acidosis, jaundice, hepatomegaly,
Treatment: fructose and sucrose free diet

Question 5

Glycogen storage disease

Answer 5

Abnormal storage of glycogen in liver and muscles
VonGierkes; liver –> hypoglycaemia, hepatomegaly, hypotonia
Pompe: muscle/myocardium –> cardiomegaly
MC Ardle: muscle weakness

Question 6

def of inborn errors of metabolism

Answer 6

Group of single gene defects resulting in catabolic or anabolic abnormalities of amino acids, carbohydrates, proteins and fat

Usually AR