Carbohydrate Metabolism

Question 1

What accumulates with a GALK deficiency?

Answer 1

Galactitol

Question 2

Another name for GALK deficiency

Answer 2

Galactosemia Type II

Question 3

Clinical feature of GALK deficiency, and can it be reversed?

Answer 3

Infantile cataracts, and it can be reversed

Question 4

GALT deficiency accumulates what?

Answer 4

Galactitol and galactose/GAL-1-P

Question 5

GALT Deficiency clinical symptoms (CLASSIC)

Answer 5

• Cataracts
• Liver enlargement
• Avoid lactose
• Sepsis (E. Coli)
• Speech Appraxia
• ID/DD
• Color (jaundice)

Others: Gonadal dysfunction and growth delay

Question 6

What is the most common form of galactosemia?

Answer 6

Duarte Variant

Question 7

What is a limitation to the GALT deficiency Partial transferase deficiency?

Answer 7

Can be missed on the NBS depending on assay

Question 8

GALE Deficiency affects what?

Answer 8

Prevents formation of glucose-1-phosphate

Question 9

GALE deficiency (3 types)

Answer 9

Generalized
Peripheral
Intermediate

Question 10

Generalized GALE enzyme activity

Answer 10

Enzyme activity low in all tissues

Question 11

Peripheral GALE enzyme activity

Answer 11

Enzyme activity low in RBCs and WBCs only

Question 12

Intermediate GALE enzyme activity

Answer 12

Enzyme activity low in RBCs and WBCs, and <50% of normal other tissues

Question 13

GALE clinical features

Answer 13

Generalized: most severe, with hypotonia, poor feeding, vomiting, weight loss, jaundive, hepatomegaly, caratacts.

Peripheral: generally asymptomatic

Intermediate: Intermediate symptoms

Question 14

Fructose metabolism: key enzyme

Answer 14

Aldolase

Question 15

Fructokinase deficiency: Clinical features

Answer 15

Clinically benign

Question 16

Hereditary Fructose Intolerance: Accumulation of?

Answer 16

Fructose-1-P

Question 17

Hereditary Fructose Intolerance: Clinical features

Answer 17

Hypoglycemia and metabolic acidosis
Acute: Sweating, nausea/vomiting, lethargy -> Coma/death
Chronic: growth deficiency, FTT, abdominal distension, liver/kidney damage

Question 18

Fructose-1,6 biphophatase deficiency what is affected?

Answer 18

Gluconeogenesis

Question 19

Fructose-1,6-Biphosphatase deficiency symptoms

Answer 19

Hypoglycemia when glycogen is limited
Metabolix acidosis: hypervenilation, shock, lethargy, convulsions, coma/death