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Inborn errors of metabolism > Overview > Flashcards

Overview Flashcards

1
Q

Severe hyperammonemia

A

Complete block in urea cycle
first few days of life
poor feeding, vomiting, seizures, coma

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2
Q

moderate neonatal ammonemia

A

200-400mmol/L
Incomplete defects of urea cycle, often in organic acid disorders

poor feeding, vomiting, CNS depression
typically no seizures

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3
Q

Transient neonatal hyperammonemia

A

self-limited,
Shortly after birth (may even need exchange transfusion)
Usually preterm infants because of immature N-acetylglutamate synthetase activity

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4
Q

Hypoglycemia

Lactic Acidosis or ketosis

A

Carbohydrate disorders
Urine reducing substances, no urine glucose:
Galactosemia: hyperchloremic acidosis
Hereditary Fructose Intolerance

Glycogen storage diseases
Type 1: von gierke: G6Patase: hypoglycemia, High TGs, bleeding, Lactic acidosis: cont nighttime feeds, allopurinol
Type 2: Pompe: NO HYPOGLYCEMIA, symmetric muscle weakness, cardiomegaly, macroglossia

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5
Q

HYPERchloremic acidosis

Urine reducing substances

A

Galactosemia

GALT

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6
Q

Severe anion gap acidosis
Ketosis
Hyperammonemia

A 
Organic acidemias
- neutropenia, thrombocytopenia, low glutamine, High C3:
Propionic aciduria (biotin)
methylmalonic aciduria (Need B12)
- Treat with CARNITINE, low protein, IVF

+low glucose, urine glutaric acid
Frontotemporal Atrophy: Glutaric aciduria Type I

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7
Q

Severe hyperammonemia
Respiratory Alkalosis
- No acidosis, no ketosis
- normal glucose

A 
Urea cycle
Ornithine transcarbamylase deficiency 
- High orotic acid, low citrulline; 
- tx: arginine
- need liver transplant

Argininosuccinic acid synthetase deficiency
- brittle hair
high citrulline, high orotic acid

Argininemia: Spastic dyplegia

Tx: remove nitrogen, benzoate, phenylacetate, eliminate protein intake

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8
Q

Hypoketotic hypoglycemia

Hyperammonemia

A

Fatty Acid Oxidation disorders
Short,
MCAD (C8) (lys to glutamate mutation)
VLCAD (C14):

Cardiomyopathy
Elev CPK and uric acid

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9
Q

Severe lactic acidosis

A

Pyruvate dehydrogenase complex deficiency

Pyruvate carboxylase deficiency

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10
Q

Downward dislocated lens

A

Homocystinuria: cystathione B synthase def
Increased risk of thromboses
- high methionine
- high homocysteineuria

Tx: metionine and lots of B6 (pyridoxine)

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11
Q

Agenesis of corpus callosum

EEG with burst suppression

A

Nonketotic Hyperglycemia

  • Resistant epilepsy, hiccups
  • elev glycine in CSF and plasma
  • EEG
  • Tx benzoate
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12
Q

Low methionine
High homocysteine
High methylmalonic acid

A

B12 (cobalamin def)

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13
Q

Low methionine

High homocystein

A

MTHFR (requires B12)

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14
Q

High leucine

High urine ketones

A

MSUD

Branched chain ketoacid dehydrogenase

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15
Q

Dihydropterine reductase

A

Rare cause of PKU

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16
Q

High phenylalanine andHigh tyrosine

A

Transient tyrosinemia of the newborn
- premature > term
asymptomatic, resolved by 4-6w

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17
Q

High tyrosine, measure next

A

Urine succinylacetone

  • high: Tyrosinemia Type 1
  • acute liver disease later
  • Deficient FAH
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18
Q

Pex1 mutation

A

Zellweger syndrome

  • die by 1 year
  • initial screen: VLCFA- C26,C24 high
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19
Q

Cholesterol metabolism

dysmorphic features

A

Smith-Lemli-Opitz

  • 7-DHCR def
  • low cholesterol, high 7-DHC
  • dysmorphic features, cardiac, underdeveloped male genitalis
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20
Q

Hypoglycemia
High urine ketones
High urine organic acids
Normal lactate

A

MSUD

Propionic or MMA aciduria

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21
Q

Dysostosis multiplex

A

mucopolysacchiridoses

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22
Q

macular cherry red spot

A

lipid storage diseases affecting the brain

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23
Q

Gaucher cells (wrinkled tissue paper) in bone marrow

A

Gaucher I and II
- glucocerebrosidase
- HSM,
Type II: profound CNS loss

24
Q

Foam cells in bone marrow

A

Neimann-Pick A and B
Sphingomyelinase
NM-A: cherry red spot, HSM, profound CNS loss
NM-B: HSM, normal CNS

25
Q

Normal bone marrow, cherry red spot

A

Tay-Sacks

Hexosaminidase A

26
Q

beta-galactosidase, defect

A

Infantile GM 1: cherry red spot, profound CNS, inclusions in WBC
Krabbe: Optic atrophy, normal bone marrow, No HSM, pround CNS loss

27
Q

Lipidoses with adrenal calcifications

A

Wolmann Disease: acid lipase

28
Q

HSM
No cherry red spot
No CNS disease

A

Gaucher I

29
Q

HSM, Cherry red spot, CNS disease

A

Neiman Pick A

30
Q

No HSM, cherry red spot, CNS disease

A

Tay-Sachs

31
Q

X-linked mucopolysaccharidosis

A

Hunter’s

  • retinitis papilledema
  • HSM, slow loss of CNS function (Vs hurler) coarse facial features, short statue, stiff joints
32
Q

Elevated pyruvate and lactate, but ratio normal (<25), elevated CSF lactate
Metabolic acidosis

A

Pyruvate dehydrogenase complex deficiency

  • requires thiamine (B1)
  • may have agenesis of corpus callosum
  • intermittent ataxia/choreoathetosis, cerebral and cerebellar atrophy

Ketogenic diet to increase acetyl coA
restrict carbohydrates

33
Q

pyruvate to oxaloacetate deficiency

A 
Pyruvate carboxylase deficiency
- cystic periventricular leukomalacia
- hypothermia, hypotonia, lethargy, vomiting, rapid deterioration, hepatomegaly
- most die in the first month of birth
Treatment: BIOTIN
34
Q

Defects in bile acid synthesis

A

3b-dehydrogenase
- prolonged hyperbili, pale stools, rickets, fat vit malabsorption, GIANT CELL HEPATITIS

5b-reductase: cholestatic jaundice, giant cell hepatitis,

measure plasma and urine bile acid levels
- tx: chenodeoxycholic acid

35
Q

Thiamine cofactor for

A

MSUD

Pyruvate dehydrogenase complex def

36
Q

Folate cofactor

A

homocystinuria

DHPR

37
Q

Copper diseases

A

Wilson Disease

  • abnormal copper transport, deposition in liver, cornea, basal ganglia, renal tubules
  • kayser fleischer rings
  • Low seruloplasmin level, normal copper level
  • D-penicillamine to chelate copper (trientine or zinc)

Menke’s Disease

  • decreased copper absorption: defect in membrane copper transport
  • PROM, hypothermia, hyperbii
  • brittle hair
  • low ceruloplasmin, low copper
  • IV copper histidine
38
Q

Cystinuria treatment

A

D-penicillamine and methionine restriction

39
Q

Neiman Pick deficiency

A

Sphingomyelinase

40
Q

Gaucher disease defect

A

glucocerebrosidase

- no eye stuff

41
Q

Bone marrow inclusions

A

ganlgiosidosis, Wolman Disease

42
Q

Lipidoses with normal bone marrow

A

Tay-Sachs
Fabry disease
Krabbe disease
metachromatic leukodystrophy

43
Q

Pyruvate dehydrogenase inheritance

A

mitochondrial

44
Q

Biotinidase deficiency symptoms

A

blindness, ataxia, deafness, seizures, alopecia, immune dysfunction, skin rash

45
Q

lipidoses with CNS only (no eye, no bone marrow stuff, no HSM)

A

metachromatic leukodystrophy

- aryl-sulfatase

46
Q

a-galactosidase

A

Fabry disease: X-linked, cloudy cornea

47
Q

Hexosaminidase A

A

Tay-Sachs

- cherry red spot, CNS loss

48
Q

Hypoglycemia and urine reducing substances

A

Galactosemia, fructose intolerance

49
Q

hypoglycemia and abnormal acylcarnitine profile

A

Fatty acid oxidation defects

50
Q

hypoglycemia after fasting

A

glycogen storage diseases

Type 1: hypoglycemia, lactic acidosis, elevated serum ketones and uric acid

51
Q

inborn errors that lead to nonimmune hydrops

A

Lysosomal storage (MPS and oligosaccharides)
Smith-lemli-optiz
Mevalonic aciduria (urine organic acids)
Zellweger
Mitochondrial disorders (serum lactate)
Glycogen storage T4: enxyme studies, liver biopsy)
G6PD (CBC and smear)
Pyruvate kinase def (CBC and smear)
Disorders of glycosylation (transferring isoforms)

52
Q

Hyperammonemia
Metabolic acidosis
Urine organic acids

A

Organic acidurias

53
Q

Hyperammonemia
Metabolic acidosis
Lactic acidosis

A

Pyruavte metabolism defects or mitochondrial energy metabolism defects

54
Q

Hyperammonemia

Abnormal plasma amino acids

A

Urea cycle defects

55
Q

Metabolic acidosis
Lactic acidosis
Hypoglycemia

A

Glycogen storage diseases

Hereditary fructose intolerance

56
Q

Metabolic acidosis
Lactic acidosis
Elevated lactate/pyruvate ratio

A

Pyruvate metabolism defects, mitochondiral energy metabolism defects

Inborn errors of metabolism (2 decks)

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