Metabolic

Front 1

Traditional neonatal galactosemia presentation

Back 1

vomiting, lethargy, depression, jaundice, HS megaly. Gram - sepsis

Front 2

Presentation of glycogen storage disease.

Back 2

hepatomegaly, late infancy presentation when child sleeps through the night. hypoglycemia.

Front 3

Peroxisome disorders

Back 3

long chain fatty acid
zellweger s. hypotonia, dysmorphic features, hepatomeglay, cataracts present from day 1

Front 4

AD familial hypercholesterolemia

Back 4

High cholesterol, xanthomas, CAD. elevated choleseterol in 1st yr of life. Initiate meds once elevated. Xanthomas by teens, 20s

Front 5

Homocystinuria

Back 5

similar to Marfans (tall thin, pectus, blonde, scoliosis, flat feet, dislocated lens), scoliosis, thromboembolus is major complication.
Pyridoxine improves 1/2 of patients. Often don't present until age 3 when lens dislocation occurs

Front 6

high ammonia and ketoacidosis suggests what

Back 6

organic acidemia. Dx by serum amino acids and urine organic acids. associated with thrombocytopenia, neutropenia, hypoglycemia. methylmalonic, propionic

Front 7

hi ammonia and respiratory alkalosis suggests

Back 7

urea cycle defect. dx by serum amino acids

Front 8

porphyrias

Back 8

AD defects in porphyrin creation. porphyrins are Fe binding molecules like heme. photosensativity and abdominal pain are the most common sx. Stool porphyrin levels.

Front 9

mucopolysaccharidosis

Back 9

late infancy. coarse face, organomegaly. urine mucopolysaccharide concentration.

Front 10

Chorionic Villus Sampling timing
Amnio timing

Back 10

CVS 10 wks
Amnio 14-16wks

Front 11

Tay - Sachs

Back 11

ar, lysosomal enzyme deficiency. Hexosaminidiase A6-9 mo normal, then hypotonia, delays, exagerated startle

Front 12

maternal PKU uncontrolled

Back 12

spontaneous abortion. MR, microcephaly, congen heart, low birthweight.

Front 13

Glycogen storage disease type I

Back 13

von Gierke d. glucose-6-phosphatase deficiency. So liver cannot produce glucose by glycolysis or gluconeogenesis. Glucose derived from GI tract alone. gives 2hr stores. Doll's face. hepatomegaly from liver trying so hard. Hypoglycemia. NG drip glucose at night until 2yrs then give raw corn starch at night

Front 14

nonglucose reducing substances

Back 14

galactosemia or fructose intolerance

Front 15

hypoglycemia, no reducing substtances or ketones

Back 15

gluconeogensis error, like glycogen storage disease.

Front 16

PKU masquarader

Back 16

tetrahydrobiopterin deficiency. cofactor to PKU. these infants fail to improve on PKU diet. need tetrahydrobiopterin, dopamine, serotonin supp in addition to PKU diet.

Front 17

24hrs of life, hypotonia, hypoglycemia, hi ammonia,

Back 17

urea cycle defect

Front 18

urea cycle disorders, genetics and sx.

Back 18

ar except OTC which is X linked. sudden and profound hypotonia on day 2 of life. hi ammonia.

Front 19

Urea cycle defect labs

Back 19

hi ammonia
respiratory alkalosis
lactic acidosis
no ketonuria

Front 20

Organic acid defect labs

Back 20

hi ammonia
hi lactic acid
ketonuria

Front 21

Wolman disease

Back 21

lipoprotein metabolism error. first few wks of life. vominting, diarrhea, malabsorption, FTT, HS megaly. adrenals large and calcified.

Front 22

Beckwith Wiedemann sx

Back 22

macrosomia, macroglossia, vsceromegaly, glabellar nevus simplex, large umbilical hernia or omphalocele

Front 23

type of hypoglycemia in Beckwidth

Back 23

pancreatic islet cell hyperplasia causing hyperinsulinemia.

Front 24

differentiate Beckwidth from IDM

Back 24

no macroglossia, umbilical hernia or omphalocele in IDM. both have islet cell hyperplasia.

Front 25

Treatment for neonatal hyperinsulinemia causing hypoglycemia

Back 25

Diazoxide

Front 26

Signs s of fatty acid ox defect

Back 26

hypoglycemia, tachypnea, met acidosis with anion gap , normal CBC. Occurs when babies sleep through the night and need fat.

Front 27

fatty acid ox labs

Back 27

carnitine complexes with long fats to get into mitochondira. Because not broken down, they build up as acylcarnitines and are excreted in urine. No ketones formed (ketones are end result of fatty acid ox. absence of ketones, elevated acylcarnitines in blood and urine.

Front 28

reducing substances

Back 28

elevated in glycogen storage disease. almost always presents by 4 months.

Front 29

MSUD

Back 29

branched cahin amino acid degredation error. Normal at birth. develops coma, vomiting, and rigidity (hypertonic) after about a week. Looks like sepsis. hypoglycemic. Needs removal of branched chainaa by PD.

Front 30

ammonia suggests what

Back 30

ammonia is from the degredation product of amino acids. Amino acid processing disorder (anion gap acidosis), urea cycle defect (no acidosis). occurs after first protein feed. transient hi ammonia (40-50) in preterm infants is normal.

Front 31

Canavan Disease

Back 31

ar N-acytlaspartic acid builds up in white matter. large amounts in urine. White matter dies. Ashkenazi. normal birth. 3-6 mo old macrocephaly, severe hypotonia, head lag. delayed milestones.

Front 32

fatty acid oxidation errors

Back 32

fasting hypoglycemia with no ketonuria. Can present with first illness 2-3yrs or at 3 month when sleeping through the night.

Front 33

carnitine deficiency

Back 33

often carnitine is deficient secondarily. In primary. cardiomyopathy ensues as young child

Front 34

Peroxisome disorders

Back 34

very long fatty acid metabolism error. two types, peroxisome broken (Zellweger), and enzyme broken (adrenoleukodystrophy). all are ar except ALD which is xr. Congenital bone disfigurement

Front 35

familial hypercholesterolemia

Back 35

co-dominant. heterozygotes partially affected. hi cholesterol, normal triglycerides. xanthomas on achilles and hand by teen.

Front 36

familial combined hyperlipidemia

Back 36

routine hi cholesterol and TG. common

Front 37

Lipid storage disorders (Lysosomal storage)

Back 37

Tay-Sachs, Sandhoff, Niemann Pick, gaucher, Fabry, metachromatic leukodystrophy.krabbe,

Front 38

Tay-Sacchs

Back 38

1/25 carrier freq in Ashkenazi, ar, heosaminidase A, loss of motor skills, startle reaction, cherry red spot. 5 mo.

Front 39

Sandhoff D

Back 39

hexosaminidase B, Same as Tay-Sacchs but with HSmegaly.

Front 40

Gaucher Disease

Back 40

most common lysosomal storage disorder in Ashkenazi. Bone, Heme, HSmegaly. easy bruising, bone pain, HSmegaly, fatigue from anemia. bone marrow will dx.

Front 41

Niemann-Pick

Back 41

fatal disorder infantcy, lysosomal storage. FTT, HSmegaly, progressiveneurodegen. loss of milestones

Front 42

glycogen storage disease

Back 42

liver glycogen: type I (von Gierke) doll face (cherrubic)
muscle glycogen: Pompe (floppy baby, myopathy), McArdle (muscle cramps, late childhood),

Front 43

Galactosemia

Back 43

lactose is galactose and glucose. E. coli sepsis, and all the usuall neonatal sepsis picture. ar. lifelong galactose elimination.

Front 44

Hereditary fructose intolerance

Back 44

ar. healthy until fructose or sucrose (fructose-glucose) is ingested. Reducing substance in urine, same as galactosemia

Front 45

mucopolysaccharidoses

Back 45

glucosaminolycans not broken down in lysosome. Hurler: normal birth, dx 6m-2y HSmeg, skeletal deform, corase face, large tongue
Hunter: severe, same as Hurler without corneal cloud, mild .
Sanfillipo: hyperactive, MR

Front 46

Gout

Back 46

hyperuricemia, arthritis. primary gout is middle aged men. secondary gout is in kids (rapid tissue breakdown or turnover)

Front 47

Lesch-Nyhan

Back 47

Self-mutilation mouth, fingers, dystonia. xr, hyperuricemia, MR, CP, choreoathetosis, spasm. nl birth, hypotonic, vomiting. consider in dx of CP when birth hx is normal.

Front 48

ketotic hypoglycemia

Back 48

most comomoon childhood hypoglycemia. 18m-5y, remits by 9y. prompted by illness or long fast. ketonuria, normal insulin level