IEM and Thermal Flashcards by Erica Unknown

Metabolic acidosis with inc AG

***Organic acidemias or FAOD
Check ketones --> 
Low --> FAOD
High --> Organic acidemia
(Can also be lactic acidosis ie. pyruvate dehydrogenase and carboxylase deficiencies, some mitochondrial disorders, GSD, hereditary fructose etc.)

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Respiratory alkalosis

Urea cycle defect

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Ketotic hyperglycinemia

Propionate pathway abnormalities

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Hypoketotic hypoglycemia

Fatty acid breakdown ie. MCAD, LCHAD
Carnitine deficiency
(starvation, can not produce glucose by fat breakdown, so body relies on carbohydrate breakdown which is not enough --> hypoglycemia; and no ketones because no breakdown of fat)

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Male cat odor in urine

3-methylcrotonyl glycinuria

Multiple carboxylase deficiency

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Musty odor urine

PKU

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Acetonuria

Organic acidemias

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Urine ketones

Organic acidemias, glycogen storage disease

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Enzyme deficiency in Galactosemia

Galactose 1 phosphate uridyl transferase (GALT)

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Reducing substances in urine

Galactosemia, Fructosemia or Tyrosinemia

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Elevated galactose 1 phosphate

Galactosemia

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Enzyme deficiency in Type I GSD Von Gierke

Glucose 6 phosphatase - MC GSD

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Enzyme deficiency in Type II GSD Pompe

Lysosomal alpha- glucosidase

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GSD with lactic acidosis

Type 1, Von Gierke

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Lab abnormality in Type II GSD Pompe

Increased creatinine phosphokinase

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Enzyme deficiency in fructosemia

Fructose 1 phosphate aldolase

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Symptoms begin after introducing cows formula

Fructosemia (vs. galactosemia sxs with BM)
Cow’s formula has sucrose
Also sxs after introduction fruit and veggies

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Elevated urine orotic acid

Ornithine carbamyl transferase (UCD)

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Low urine orotic acid

N- acetylglutamate synthetase (UCD)

Carbamyl phosphate synthetase (UCD)

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High citrulline and urine orotic acid

Citrullinemia, defect in arginosuccinic acid synthetase
or Arginisoccinic aciduria, defect in arginosuccinic lyase (UCD)
Both have brittle hair

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High arginine and urine orotic acid

Arginase deficiency –> argininemia

Typically presents with spastic diplegia

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Enzyme deficiency in MSUD

Ketoacid dehydrogenase (require thiamin)

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Enzyme deficiency in PKU

Phenylalanine hydroxylase (converts Phenylalanine to Tyrosine)

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Increased Phenylalanine to Tyrosine ratio

PKU

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Microcephaly, IUGR, CHD, mental deficiency

Neonatal findings with uncontrolled Maternal PKU

Enzyme deficiency in Tyrosinemia type 1

Fumarylacetoacetate hydrolase

Succinylacetone in urine

Tyrosinemia Type 1

downward dislocated lens

Homocystinuria

Upward dislocated lens

Marfan syndrome

Hiccups

Non ketotic hyperglycinemia | defect in glycine cleavage pathway

Elevated glycine

Non ketotic hyperglycinemia (defect in glycine cleavage pathway) Propionate pathway abnormalities

Elevated CSF to plasma glycine ratio

Non ketotic hyperglycinemia | defect in glycine cleavage pathway

Enzyme deficiency in Isovaleric aciduria

Isovaleryl CoA dehydrogenase

Hyperammonemia + AG MA

Organic acidemias (XS acid inhibits urea cycle so leads to increased hyperammonemia)

Sweaty feet odor

Isovaleric academia or glutaric aciduria type 2 (Organic acidemia)

Enzyme deficiency in Propionic aciduria

Propionyl-CoA carboxylase (Organic acidemia) | *requires biotin

Enzyme deficiency in methylmalonic aciduria

Methylmalonyl-CoA isomerase (Organic acidemia) | *Requires Cobalamin/Vitamin B12

Increased C3 acylcarnitine

Propionate pathway abnormalities (Organic acidemia) | Propionyl CoA = C3

Frontotemporal atrophy

Glutaric aciduria type 1 (Organic acidemia)

MC FAOD

MCAD

Increased C8

MCAD

Enzyme deficiency in LCHAD

3-hydroxyacyl CoA dehydrogenase

Dysostosis multiplex

Pathognomic of mucopolysaccharoidoses | Thickening of bones

Cherry red spot

Nienmann Pick and Tay sachs (Lysosomal storage disease, Lipidoses) (Pathognomonic of lipid storage disease that affects the CNS)

X-linked lipidoses

Fabry disease (Lysosomal storage disease, Lipidoses)

Foam cells in bone marrow

Nienmann Pick (sphingomyelinase deficiency) (Lysosomal storage disease, Lipidoses)

Enzyme deficiency in Gaucher disease

Glucocerebrosidase | Lysosomal storage disease, Lipidoses

Enzyme deficiency in Nienmann Pick disease

Sphingomeylinase (put your sphinger in your nose) | (Lysosomal storage disease, Lipidoses)

Cherry red spot without HSM

Tay Sachs (Nienmann pick has HSM) (Lysosomal storage disease, Lipidoses)

Cloudy cornea

Hurler (Hunter needs to see) (Lysosomal storage disease, mucopolysacchhroidosis)

X-linked mucopolysacchhroidosis

Hunter (X marks the spot) | Lysosomal storage disease, mucopolysacchhroidosis

Enzyme deficiency in Hurler

Lysosomal alpha-iduronidase | Lysosomal storage disease, mucopolysacchhroidosis

Enzyme deficiency in Hunter

Iduronidase 2-sulfatase (Lysosomal storage disease, mucopolysacchhroidosis)

Elevated pyruvate and lactate

Pyruvate dehydrogenase complex deficiency (Mitochondrial disorder) or Pyruvate carboxylase deficiency (AR mitochondrial disorder)

Pyruvate carboxylase requires what

Biotin | (AR mitochondrial disorder)

Low hydroxybutyrate/acetoaccetate ratio

Pyruvate carboxylase deficiency (AR mitochondrial disorder)

Cystic PVL

Pyruvate carboxylase deficiency (AR mitochondrial disorder) | "CarboxYlaSe = CYStic, PVl = PyruVate"

Low ceruloplasmin levels

Wilson disease (decreased copper into ceruloplasmin and abnormal copper deposition)

Brittle, kinky, telly hair

Menkes disease (defect in copper membrane transport channel --> poor absorption)

Wormian bones

Menkes disease (defect in copper membrane transport channel --> poor absorption)

Hepatocerebrorenal disease

Zellweger spectrum

Increased C26

``` (C26= Very long chain fatty acid) Zellweger spectrum (Hepatocerebrorenal disease) ```

Humidity decreases which heat loss

Evaporative

plastic heat shields decrease which heat loss

Radiant

Double walled incubators decrease which heat loss

Radiant

Portholes decrease which heat loss

Convective

Rubber foam or exothermic mattress decreases which heat loss

Conductive

Plastic wrap decreases which heat loss

Evaporative and Convective

Neonate decreased response to cooling because:

Minimal subcutaneous fat and immature nervous system

SA to body weight ratio in neonate

3 x adult --> Increased heat loss

Thermoneutral zone

Environmental temperature that allows a baby to have minimal metabolic demands and maintain a normal body temperature

IEM and Thermal Flashcards

(71 cards)