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Traditional neonatal galactosemia presentation
vomiting, lethargy, depression, jaundice, HS megaly. Gram - sepsis
Presentation of glycogen storage disease.
hepatomegaly, late infancy presentation when child sleeps through the night. hypoglycemia.
Peroxisome disorders
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
AD familial hypercholesterolemia
High cholesterol, xanthomas, CAD. elevated choleseterol in 1st yr of life. Initiate meds once elevated. Xanthomas by teens, 20s
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
high ammonia and ketoacidosis suggests what
organic acidemia. Dx by serum amino acids and urine organic acids. associated with thrombocytopenia, neutropenia, hypoglycemia. methylmalonic, propionic
hi ammonia and respiratory alkalosis suggests
urea cycle defect. dx by serum amino acids
AD defects in porphyrin creation. porphyrins are Fe binding molecules like heme. photosensativity and abdominal pain are the most common sx. Stool porphyrin levels.
late infancy. coarse face, organomegaly. urine mucopolysaccharide concentration.
Chorionic Villus Sampling timing
Amnio timing
CVS 10 wks
Amnio 14-16wks
Tay - Sachs
ar, lysosomal enzyme deficiency. Hexosaminidiase A6-9 mo normal, then hypotonia, delays, exagerated startle
maternal PKU uncontrolled
spontaneous abortion. MR, microcephaly, congen heart, low birthweight.
Glycogen storage disease type I
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
nonglucose reducing substances
galactosemia or fructose intolerance
hypoglycemia, no reducing substtances or ketones
gluconeogensis error, like glycogen storage disease.
PKU masquarader
tetrahydrobiopterin deficiency. cofactor to PKU. these infants fail to improve on PKU diet. need tetrahydrobiopterin, dopamine, serotonin supp in addition to PKU diet.
24hrs of life, hypotonia, hypoglycemia, hi ammonia,
urea cycle defect
urea cycle disorders, genetics and sx.
ar except OTC which is X linked. sudden and profound hypotonia on day 2 of life. hi ammonia.
Urea cycle defect labs
hi ammonia
respiratory alkalosis
lactic acidosis
no ketonuria
Organic acid defect labs
hi ammonia
hi lactic acid
Wolman disease
lipoprotein metabolism error. first few wks of life. vominting, diarrhea, malabsorption, FTT, HS megaly. adrenals large and calcified.
Beckwith Wiedemann sx
macrosomia, macroglossia, vsceromegaly, glabellar nevus simplex, large umbilical hernia or omphalocele
type of hypoglycemia in Beckwidth
pancreatic islet cell hyperplasia causing hyperinsulinemia.
differentiate Beckwidth from IDM
no macroglossia, umbilical hernia or omphalocele in IDM. both have islet cell hyperplasia.
Treatment for neonatal hyperinsulinemia causing hypoglycemia
Signs s of fatty acid ox defect
hypoglycemia, tachypnea, met acidosis with anion gap , normal CBC. Occurs when babies sleep through the night and need fat.
fatty acid ox labs
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.
reducing substances
elevated in glycogen storage disease. almost always presents by 4 months.
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.
ammonia suggests what
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.
Canavan Disease
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.
fatty acid oxidation errors
fasting hypoglycemia with no ketonuria. Can present with first illness 2-3yrs or at 3 month when sleeping through the night.
carnitine deficiency
often carnitine is deficient secondarily. In primary. cardiomyopathy ensues as young child
familial hypercholesterolemia
co-dominant. heterozygotes partially affected. hi cholesterol, normal triglycerides. xanthomas on achilles and hand by teen.
familial combined hyperlipidemia
routine hi cholesterol and TG. common
Lipid storage disorders (Lysosomal storage)
Tay-Sachs, Sandhoff, Niemann Pick, gaucher, Fabry, metachromatic leukodystrophy.krabbe,
1/25 carrier freq in Ashkenazi, ar, heosaminidase A, loss of motor skills, startle reaction, cherry red spot. 5 mo.
Sandhoff D
hexosaminidase B, Same as Tay-Sacchs but with HSmegaly.
Gaucher Disease
most common lysosomal storage disorder in Ashkenazi. Bone, Heme, HSmegaly. easy bruising, bone pain, HSmegaly, fatigue from anemia. bone marrow will dx.
fatal disorder infantcy, lysosomal storage. FTT, HSmegaly, progressiveneurodegen. loss of milestones
glycogen storage disease
liver glycogen: type I (von Gierke) doll face (cherrubic)
muscle glycogen: Pompe (floppy baby, myopathy), McArdle (muscle cramps, late childhood),
lactose is galactose and glucose. E. coli sepsis, and all the usuall neonatal sepsis picture. ar. lifelong galactose elimination.
Hereditary fructose intolerance
ar. healthy until fructose or sucrose (fructose-glucose) is ingested. Reducing substance in urine, same as galactosemia
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
hyperuricemia, arthritis. primary gout is middle aged men. secondary gout is in kids (rapid tissue breakdown or turnover)
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.
ketotic hypoglycemia
most comomoon childhood hypoglycemia. 18m-5y, remits by 9y. prompted by illness or long fast. ketonuria, normal insulin level

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