Carbohydrates Metabolism Flashcards Preview

Ch 19: Inborn Errors of Metabolism > Carbohydrates Metabolism > Flashcards

Flashcards in Carbohydrates Metabolism Deck (7)
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1
Q

How do patients with galactosemia present?

A

Appear normal at birth until first formula with lactulose (MBM or formula). Then get poor feeding and FTT

Clinical features:

  1. Abdominal distension with hepatomegaly
  2. Hypoglycemia
  3. Non-glucose reducing substances in the urine
  4. Lethargy and hypotonia

*Associated with prolonged jaundice and gram negative organisms (E. coli)

2
Q

What is the cause of and how do you diagnose & treat patients with galactosemia?

A

Deficiency of galactose-1-phsophate uridyltransferase (GALT).

Diagnosis:
Measure GALT in RBCs

Treatment:
Provide soy based formula. Repeat NBS. 
If you don't treat you can get
1. Cataracts (they are reversible)
2. Intellectual disability
3. Liver Disease
3
Q

What is the typical presentation of a pt with hyperinsulinism?

A

Afebrile Infant with generalized seizures. They are hypoglycemia that is remedied with an injection of glucagon.

Height, weight, and head circumference are all in the upper limits of normal (>95th %)

*W/o Beckwith-Wiedemann also has hypoglycemia but you get microcephaly, omphalocele, macroglossia, and visceromegaly. Also it is due to islet cell hyperplasia.

4
Q

What is the typical presentation of a pt with Glycogen Storage Disease Type I (Von Gierke)?

A
Hypoglycemia-->seizures
Distended Abdomen
Doll-like/ Cherubic face
Consanguinity common feature
Poor growth
Large liver
Elevated Triglycerides and Cholesterol
*Get hypoglycemia with fasting!
5
Q

What is the typical presentation of a pt with Glycogen Storage Disease Type II (Pompe)?

A
Floppy babies
Hard muscles
Macroglossia
FTT
Cardiomegaly
Hepatomegaly

DOES NOT CAUSE hypoglycemia or acidosis

6
Q

What causes Glycogen Storage Disease Type I (Von Gierke) and how do you treat it?

A

Due to deficiency of hepatic glucose-6-phosphatase.

This is the final step in the liver to produce glucose. Prolonged fasting is bad

Treat with frequent snacks and meals, tube feeds
> 20 add cornstarch

NEED GLUCOSE to help, not anything else (like glucagon)

7
Q

What causes Glycogen Storage Disease Type II (Pompe)?

A

Deficiency in lysosomal breakdown of glycogen