Metabolic

Question 1

What is the presentation of glycogen storage disease type 1? Von gierke

Answer 1

Present early in life with persistent intractable hypoglycemia , hepatomegaly and renomegaly, lactic acidosis, hyperlipidemia

Question 2

How does systemic primary carnitine deficiency present?

Key words ?

Answer 2

Age 3 mo- 2 years
Hypoketotic hypoglycemia- lethargy, poor po,
Due to defective long chain FA entry into mitochondria
Sx triggered by inter current illness or long period of fasting
Autosomal recessive
Rx levocarnitine

Question 3

what is the presentation of tay sachs disease

Answer 3

normal up to 6-9mo–> hypotonia, apathy developmental delay, EXAGGERATED STARTLE RESPONSE
cherry red spot on macula
macrocephaly
rapid progression and death by 6 yo

Question 4

what is the mutation in tay sachs? what is prenatal dx options

Answer 4

Absence of HexA- lysosomal enzyme

can dtect HexA activity by CVS as early as 10 weeks or amnio 14-16 weeks

Question 5

What is the mode of inheritance of hunter syndrome

Answer 5

X linked recessive

Question 6

what are the signs of hunter syndrome

Answer 6

normal until ~ 1 year when GAG build up:

• abdominal hernia, ear infection and runny nose
• HSM
• joint stiffness and limited motion
• neurodegenerative delay
• coarse facial feature, large tongue
• short stature

Question 7

What are the hallmark lab findings of hypophosphatemic rickets

Answer 7

• hypoposphatemia

- normal PTH, Ca,

Question 8

What causes hypophophatemic rickets?

Answer 8

gene mutation in FGF receptor causes renal wasting of phosphate