Metabolic Diseases

Question 0

• infant with lethargy and poor feeding, seizures, freq infx
• *odor of sweaty feet
• Tx is protein restriction

Answer 0

Isovaleric acidemia

Question 1

• incr ammonia
• ketonuria
• anion gap acidosis
• present in first 2d of life after protein is introduced
• Tx with hydration
• Dx: urine organic acids
• may have decr plts and WBC

Answer 1

Organic academics

Question 2

• autosomal recessive
• hypoglycemia, hepatomegaly
• no reducing substances, no ketones, nl amino acids
• presents during periods of fasting
• Dx with acylcarnitine profile

Answer 2

Defects in FA metabolism

MCAD, LCAD, VLCAD

Question 3

• incr ammonia, no acidosis, no ketones
• hypotonia, coma, encephalopathy, resp alkalosis, lactic acidosis
• Tx: decr protein intake, incr glucose intake

Answer 3

Urea cycle defects

Question 4

• infant with poor feeding, FTT, abdominal distension, hypoglycemia, gram negative sepsis, positive urine reducing substances
• deficiency of GALT
• Dx: measuring GALT in RBCs
• Tx: galactose free diet
• may result in cataracts, MR, and liver disease

Answer 4

Galactosemia

Question 5

• seizures just after a meal
• stays away from sweets
• Tx: avoidance of fructose

Answer 5

Fructose intolerance

Question 6

• decr glucose, acidosis, incr tone, HSM, sz, tachypnea, lethargy
• glycogen storage dz
• urine smells
• onset during first week of life
• Elevated: Valine, Isoleucine, Alloisoleucine, Leusine

Answer 6

Maple syrup urine disease

Question 7

• macrosomia
• microcephaly
• macroglossia
• visceromegaly
• omphalocele
• hypoglycemia

Answer 7

Beckwith-Wiedeman Syndrome

Question 8

-infant with hypoglycemia and ketonuria

Answer 8

Adrenal insufficiency

Question 9

• infant with hypoglycemia
• vomiting
• FTT
• hepatomegaly
• • reducing substances

Answer 9

Galactosemia

Question 10

• lactic acidosis
• rash
• alopecia
• neuro Sx: ataxia –> coma

Answer 10

Biotinidase deficiency

Question 11

• dark diaper (urine homogentistic acid)

- Tx: diet low in phenylalanine and tyrosine

Answer 11

Alcaptonuria

Question 12

• dislocated lens, skeletal abnl, cognitive defects
• Test: urine
• Tx: pyridoxine or diet high in cysteine and low in methionine

Answer 12

Homocysteinuria

Question 13

• asymptomatic x few months
• presents with vomiting, irritability, eczema, musty urine odor
• results in microcephaly, CHD, low birthweight, MR
• Tx: low phenylalanine formula

Answer 13

PKU

Question 14

• coarse facies
• corneal clouding
• Autosomal recessive

Answer 14

Hurler’s Syndrome

Question 15

• coarse facies

- X-linked MPS

Answer 15

Hunter’s Syndrome

Question 16

• autosomal recessive
• manifests during 1st year of life
• urine with incr heparin sulfate
• HSM

Answer 16

San Filippo Syndrome

Question 17

• skeletal involvement
• corneal clouding
• normal intelligence

Answer 17

Morquio Syndrome

Question 18

• FHx
• recurrent infx
• developmental delay
• FTT

Answer 18

Purine/Pyrimidine Dz

ADA Deficiency
Lesch-Nyhan Syndrome

Question 19

• hypoglycemia and distended abdomen
• doll like or cherubic face
• consanguinity
• poor growth, sz, incr lipids
• Labs: incr lactic acid and uric acid
• Tx: frequent snacks and meals, cornstarch after age 2

Answer 19

VonGierke Dz (GSD Type 1)

Question 20

-difficult to manage seizures
-peroxisomal dz
EEG burst suppression
-uncontrolled hiccups
Tx: ativan, dextromethorphan, sodium benzoate

Answer 20

Non-ketotic hyperglycinemia

Question 21

• deficiency in lysosomal breakdown of glycogen
• 1 mo or younger- nl at birth
• floppy, FTT, hepatomegaly, macroglossia, cardiomegaly, hard muscles
• death from respiratory failure

Answer 21

Pompe Disease (GSD II)

Question 22

• autosomal dominant (50%)
• deficiency fo LDL receptors
• Xanthomas after age 10
• NOT associated with obesity

Answer 22

Familial Hypercholesterolemia

Question 23

• skin nodules and painful joints
• first week of life
• cherry red spot in macula

Answer 23

Farber’s Disease

Question 24

- defective lipoprotein mechanism - triglyceride and cholesterol esters in body tissues - FTT, HSM, calcified adrenal gland **

Answer 24

Wolman Disease

Question 25

- low serum copper - low serum ceruloplasmin - high tissue copper - twisted hairs - recessive

Answer 25

Menkes Kinky Hair Disease

Question 26

-jaundice, hepatomegaly, and neurologic deterioration -deposition of copper in liver and brain _KF rings -Dx: liver BX -low ceruloplasmin

Answer 26

Wilson's Disease

Question 27

- organomegaly, bone pain, bruising, short stature - thrombocytopenia, osteosclerosis, lytic lesions - decr B glucosidase activity

Answer 27

Gaucher Disease

Question 28

-deficiency in enzyme BH4 (tetrahydrobioptin)

Answer 28

PKU

Question 29

- error in methionine metabolism - thin, scoliosis, posteriorly dislocated lens, cognitive impairment - at risk for pulmonary embolus - responds to pyridoxine Tx

Answer 29

Homocystinuria