Metabolic

Question 1

PKU

Answer 1

• Phenylalanine can’t to tyrosine

SX: eczematoid rash, musty olor

Question 2

Hyperphenylalaninemia

Answer 2

• neuro sx despite normal phenylalanine levels

- interference of synthesis of serotonin, dopa & norepi

Question 3

Alkaptonuria

Answer 3

• lack homogentistic acid dehydrogenase
• urine as it sits forms dark-brown/black pigments, sweat dark & cerum black
• ochronosis- dark pigments in ears/sclera

Question 4

branched AA

Answer 4

• valine, leucine, isoleucine

- Maple Syrup Urine Dz

Question 5

Glutaric aciduria Type 1

Answer 5

• subdural hematomas & retinal hemorrhages

Question 6

Homocystinuria

Answer 6

• marfanoid habitus, MR
• LENS dislocation- down
• clots in arteries & veins

Question 7

Nonketotic hyperglycinemia

Answer 7

• hiccups in utero, present few days after birth w/ anorexia & lethargy progress to coma
• later intractable seizures

Question 8

Ornithine transcarbamoylase def

Answer 8

• X-linked
• high ammonia, NO ketoacidosis, low BUN
• RESPIRATORY ALKALOSIS

Question 9

isovaleric acidemia

Answer 9

• odor of sweaty feet

- encephalopathy

Question 10

Propionic acidemia

Answer 10

• neonate- severe ketoacidosis +/- high ammonia
• SX- early bone marrow depression
  late- cardiomyopathy

Question 11

Carboxylate deficiency

Answer 11

TRIAD; alopecia, skin rash, encephalopathy

Question 12

Methylmalonic acidemia

Answer 12

• ketoacidosis +/- high ammonia
• thrombocytopenia * ketotic hyperglycemia
• LATE- renal failure, cardiomyopathy

Question 13

Medium-chain acyl CoA dehydroganese & Glutaric acidemia type 2 CAN NOT use…

Answer 13

medium chain TG

Question 14

Type 1 Glycogen Storage Dz (glucose 6-phosphatase)

Answer 14

• 3-4 MO
• hepatomegaly, FTT, hypoglycemia w/ seizures
• hyperlipidemia

Question 15

Type 4 Glycogen Storage Dz (Branching Enzyme Deficienc)

Answer 15

• cirrhosis of liver w/ hepatomegaly

- FTT

Question 16

Type 11 Glycogen Storage Dz

Answer 16

• Proximal tubular dysfunction

- Glycogen in liver & kidney

Question 17

Type 5 GSD (McArdle Dz)

Answer 17

• exercise induce M cramps & exercise intolerance
• Rhabdomyolisis
• Glucose B$ exercise helps

Question 18

Type 2 GSD (Pompe Dz)

Answer 18

• Glycogen accumulates in lysosomes

Question 19

Galactosemia

Answer 19

• seen 1st week of life
• increase risk E. coli sepsis
• Speech disorders

Question 20

Galactokinase Deficiency

Answer 20

• cataracts

Question 21

Deficiency of fructose bisphosphate aldolase

Answer 21

• seen much later than Galactosemia w/ ingestion of sugars

Question 22

Fructose diphosphate defic

Answer 22

• defect gluconeogenesis
• severe METABOLIC ACIDOSIS
• Hyperventilation
• seizures & coma

Question 23

Kearns-Sayre & Chronic, Progressive External Ophthalmoplegia Sy

Answer 23

• TRIAD- ptosis, ophthalmoplegia, ragged-red fibers

Question 24

Firedrich Ataxia

Answer 24

• Hypo/abscent tendon reflexes
• Ataxia
• Impaired viratory & propioception
• Hyperthrophic cardiomyopathy
• DM