Peds Shelf- Inborn Errors Of Metabolism/genetic Syndromes

Front 1

What is the most common error of carbohydrate metabolism?

Back 1

Galactosemia

Front 2

What enzyme is deficient in galactosemia?

Back 2

galactose 1 phosphate uridyl transferase

Front 3

Inheritence pattern of galactosemia?

Back 3

Autosomal recessive

Front 4

When in life do galactosemia symptoms appear?

Back 4

A few days to weeks after birth

Front 5

Five categories of symptoms of galactosemia

Back 5

Liver (hepatomegaly, direct hyperbilirubinemia, CoAg disorders)
Renal dysfunction (acidosis, glycosuria, aminoaciduria)
Emesis
Anorexia
Poor Growth

Front 6

What will you develop at two months with galactosemia?

Back 6

Cataracts

Front 7

Two adult sequelae of galactosemia?

Back 7

Learning disabilities, premature ovarian failure

Front 8

Diagnosis of galactosemia?

Back 8

Detecting reduced levels of erythrocyte galactose-1-phosphate uridyl transferase; galactose in urine (+ reaction for reducing substances, - reaction with glucose oxidase)

Front 9

Treatment for galactosemia

Back 9

Remove all formulas and foods containing galactose (includes everything that contains lactose)

Front 10

Typical overall manifestations of glycogen storage diseases

Back 10

Growth failure, hepatomegaly, fasting hypoglycemia

Front 11

What is the most common amino acid metabolism disorder?

Back 11

PKU

Front 12

What enzyme is deficient in PKU?

Back 12

phenylalanine hydroxylase (converts phenylalanine to tyrosine)

Front 13

When do symptoms of PKU develop?

Back 13

childhood rather than infancy

Front 14

What are the symptoms of PKU?

Back 14

Neuro- moderate to severe MR, hypertonia, tremors, behavioral problems
Light complexion (blocked from making melanin)
Mouse-like/musty urine

Front 15

Treatment of PKU

Back 15

Avoid phenylalanine

Front 16

What are babies of PKU mothers born with?

Back 16

microcephaly, MR, congenital heart disease

Front 17

What is the cause of homocysteinuria?

Back 17

Defect in the amino acid pathway that converts methionine to cysteine and serine (eg cystathionine synthase deficiency)

Front 18

What are the symptoms of homocysteinuria and when do they appear?

Back 18

In childhood; marfanoid body habitus, dislocated eye lenses, mild to moderate MR, vascular thromboses that lead to stroke/MI

Front 19

Management of homocysteinuria?

Back 19

Difficult- if you restrict sulfhydryl groups you get a terrible tasting diet; about 1/2 of patients respond to pyridoxine

Front 20

What is the other name for pyridoxine?

Back 20

Vitamin B6

Front 21

What kind of inheritence does OTC deficiency have?

Back 21

x-linked

Front 22

What is the defect in OTC deficiency?

Back 22

Amino acid metabolism --> ammonia --> urea. In OTC, you are missing ornithine transcarbamoylase which prevents ornithine + carbamoylphosphate --> citrulline. This leads to hyperammonemia.

Front 23

What are the clinical manifestations of OTC deficiency and when do they appear?

Back 23

Appear 24-48 hours after inititation of feedings (with protein); lethargy, coma/seizures. Female carriers may have headaches/emesis after protein meals and MR/learning disabilities

Front 24

How do you make the diagnosis of OTC deficiency?

Back 24

Measure the level of orotic acid in the blood (need to look up if it would be high or low)

Front 25

What is the treatment of OTC deficiency?

Back 25

Extremely low protein diet + alternative ways to excrete nitrogen using benzoic acid and phenylacetate

Front 26

What is deficient in Hurler's Syndrome?

Back 26

alpha-iduronidase

Front 27

Small face, small jaw, prominent occiput, no skin creases on palmar aspect of digits, overlapping of fingers bilaterally, rocker bottom feet, limited hip abduction. Diagnosis?

Back 27

Trisomy 18 = Edward's Syndrome

Front 28

Most common heart defect in Edward's syndrome?

Back 28

VSD

Front 29

Common heart defects in trisomy 21?

Back 29

ASD, endocardial cushion defects

Front 30

Common heart defect in Williams syndrome?

Back 30

supravalvular aortic stenosis

Front 31

Common heart defects in CATCH-22 syndromes (DiGeorge, etc.)?

Back 31

Conotruncal abnormalities like truncus arteriosus, Tetralogy of Fallot, interrupted aortic arch

Front 32

Common heart defect in neonatal lupus?

Back 32

Congenital heart block

Front 33

15 year old with unstable gait and speech worsening over 6 months. Scoliosis, hammer toes. Dysarthria, dysmetria, nystagmus, absence of deep plantar reflexes on neuro exam. Diagnosis?

Back 33

Friedrich ataxia

Front 34

Most common cause of death with Friedrich ataxia?

Back 34

Cardiomyopathy

Front 35

Parts of brain affected with Friedrich ataxia?

Back 35

spinocerebellar tracts, posterior columns, pyramidal tract --> gait ataxia, frequent falling, dysarthria

Front 36

Inheritence of Friedrich ataxia?

Back 36

autosomal recessive

Front 37

Ashkenazi Jewish boy, pain in right knee. History of easy bruising and chronic fatigue. Hepatosplenomegaly. Erlenmeyer flask deformity in distal femur. Anemia, thrombocytopenia. Bone marrow with cells with wrinkled paper appearance. Dx?

Back 37

Gaucher disease = deficiency of beta glucosidase

Front 38

Niemann Pick disease- what is the deficiency?

Back 38

Sphingomyelniase; note that it's fatal disorder in infancy

Front 39

Failure to thrive, hepatosplenomegaly, rapidly progressive neurodegenerative course --> death at 2/3 years = ?

Back 39

Niemann Pick disease

Front 40

What is the deficiency in GM1 gangliosidosis?

Back 40

deficient activity of beta galactosidase

Front 41

Pt. presents at birth with hepatosplenomegaly, skeletal abnormalities (anterior breaking of the vertebrae, enlargement of sella turcica, thickening of calvarium). Dx?

Back 41

GM1 gangliosidosis

Front 42

What are the GM2 gangliosidoses?

Back 42

Tay-Sachs and Sandhoff's disease

Front 43

Pt with hepatosplenomegaly, cherry red spot in retina, neurologic symptoms.

Back 43

Tay-Sachs or Sanhoff's

Front 44

What is the deficiency in Farber disease?

Back 44

Deficiency of lysosomal enzyme ceramidase; Patients present with bone pain and joint swelling

Front 45

Partial deficiency of 21 hydroxylase gives what symptoms?

Back 45

Hyperandrogenism as adult/adolescent, elevated 17 alpha hydroxyprogesterone levels, normal sodium/K

Front 46

Total 17 hydroxylase deficiency presents with?

Back 46

delayed puberty, mineralocorticoid excess (hypertension, hypokalemia, hypernatremia)

Front 47

Total deficiency of 21 hydroxylase presents with?

Back 47

Baby with virilization/androgenization, decreased production of mineralocorticoids/glucocorticoids which --> salt wasting

Front 48

11 beta hydroxylase deficiency leads to?

Back 48

Androgen and mineralocorticoid excess (hypertension, hypokalemia, hypernatremia)

Front 49

3 beta hydroxysteroid dehydrogenase deficiency leads to?

Back 49

DHEA-S excess, decrease testosterone and mineralocorticoids (so salt wasting)

Front 50

Brain tumors (medulloblastomas and gliomas) + FAP or HNPCC = what syndrome?

Back 50

Turcot's

Front 51

Autosomal dominant syndrome with colonic polyps + prominent extraintestinal lesions like desmoid tumors, sebaceous/epidermoid cysts, lipomas, osteomas, supernumerary teeth, gastric polyps, juvenile nasopharyngeal angiofibromas?

Back 51

Gardner's

Front 52

Autosomal dominant syndrome with intestinal hamartomatous polyps + mucocutaneous melanocytic macules?

Back 52

Peutz-Jeghers syndrome

Front 53

Associated of GI tract hamartomas with breast Ca, thyroid Ca, and nodular gingival hyperplasia?

Back 53

Cowden or multiple hamartoma syndrome

Front 54

Juvenile type polyps + ectodermal abnormalities like alopecia, hyperpigmentation, and nail loss (onycholysis)=?

Back 54

Cronkhite-Canada syndrome