Metabolic Disorders

Question 1

Galactokinase deficiency

Answer 1

Autosomal recessive
Galactitol accumulates in blood
Galactosemia and galactosuria; infantile cataracts
May present as failure to track objects or to develop a social smile (rarely also causes pseudotumor cerebri)

Question 2

Galactose-1-phosphate uridyltransferase

Answer 2

Autosomal recessive
accumulation of toxic subs (like galactiol) which accumulates in lens;
symptoms begin when infant begins feeding (due to lactose in breast milk and formula)
Fialure to thrive, jaundice, hepatomeg, cataracts, intelect disability, ecoli sepsis in neonates
Exclude galactose and glucose form diet
More serious defects lead to PO4 depletion

Question 3

Issues causing homocystinuria

Answer 3

Cystathionine synthase deficiency
Dec affinity of cystathionine synthase for pyridoxal phosphate
Methionine synthase deficiency

Question 4

What defect causes Cystinuria

Answer 4

Defect in renal PCT and intestinal amino acid transporter that prevents reabsorption

Question 5

Lysosomal acid 1-4 glucosidase

Answer 5

(also has a1-6 glucosidase activity) (acid maltase)