Metabolic Flashcards
1
Q
PKU
A
- Phenylalanine can’t to tyrosine
SX: eczematoid rash, musty olor
2
Q
Hyperphenylalaninemia
A
- neuro sx despite normal phenylalanine levels
- interference of synthesis of serotonin, dopa & norepi
3
Q
Alkaptonuria
A
- lack homogentistic acid dehydrogenase
- urine as it sits forms dark-brown/black pigments, sweat dark & cerum black
- ochronosis- dark pigments in ears/sclera
4
Q
branched AA
A
- valine, leucine, isoleucine
- Maple Syrup Urine Dz
5
Q
Glutaric aciduria Type 1
A
- subdural hematomas & retinal hemorrhages
6
Q
Homocystinuria
A
- marfanoid habitus, MR
- LENS dislocation- down
- clots in arteries & veins
7
Q
Nonketotic hyperglycinemia
A
- hiccups in utero, present few days after birth w/ anorexia & lethargy progress to coma
- later intractable seizures
8
Q
Ornithine transcarbamoylase def
A
- X-linked
- high ammonia, NO ketoacidosis, low BUN
- RESPIRATORY ALKALOSIS
9
Q
isovaleric acidemia
A
- odor of sweaty feet
- encephalopathy
10
Q
Propionic acidemia
A
- neonate- severe ketoacidosis +/- high ammonia
- SX- early bone marrow depression
late- cardiomyopathy
11
Q
Carboxylate deficiency
A
TRIAD; alopecia, skin rash, encephalopathy
12
Q
Methylmalonic acidemia
A
- ketoacidosis +/- high ammonia
- thrombocytopenia * ketotic hyperglycemia
- LATE- renal failure, cardiomyopathy
13
Q
Medium-chain acyl CoA dehydroganese & Glutaric acidemia type 2 CAN NOT use…
A
medium chain TG
14
Q
Type 1 Glycogen Storage Dz (glucose 6-phosphatase)
A
- 3-4 MO
- hepatomegaly, FTT, hypoglycemia w/ seizures
- hyperlipidemia
15
Q
Type 4 Glycogen Storage Dz (Branching Enzyme Deficienc)
A
- cirrhosis of liver w/ hepatomegaly
- FTT
