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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
Normal bone marrow, cherry red spot
Tay-Sacks | Hexosaminidase A
26
beta-galactosidase, defect
Infantile GM 1: cherry red spot, profound CNS, inclusions in WBC Krabbe: Optic atrophy, normal bone marrow, No HSM, pround CNS loss
27
Lipidoses with adrenal calcifications
Wolmann Disease: acid lipase
28
HSM No cherry red spot No CNS disease
Gaucher I
29
HSM, Cherry red spot, CNS disease
Neiman Pick A
30
No HSM, cherry red spot, CNS disease
Tay-Sachs
31
X-linked mucopolysaccharidosis
Hunter's - retinitis papilledema - HSM, slow loss of CNS function (Vs hurler) coarse facial features, short statue, stiff joints
32
Elevated pyruvate and lactate, but ratio normal (<25), elevated CSF lactate Metabolic acidosis
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
pyruvate to oxaloacetate deficiency
``` Pyruvate carboxylase deficiency - cystic periventricular leukomalacia - hypothermia, hypotonia, lethargy, vomiting, rapid deterioration, hepatomegaly - most die in the first month of birth Treatment: BIOTIN ```
34
Defects in bile acid synthesis
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
Thiamine cofactor for
MSUD | Pyruvate dehydrogenase complex def
36
Folate cofactor
homocystinuria | DHPR
37
Copper diseases
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
Cystinuria treatment
D-penicillamine and methionine restriction
39
Neiman Pick deficiency
Sphingomyelinase
40
Gaucher disease defect
glucocerebrosidase | - no eye stuff
41
Bone marrow inclusions
ganlgiosidosis, Wolman Disease
42
Lipidoses with normal bone marrow
Tay-Sachs Fabry disease Krabbe disease metachromatic leukodystrophy
43
Pyruvate dehydrogenase inheritance
mitochondrial
44
Biotinidase deficiency symptoms
blindness, ataxia, deafness, seizures, alopecia, immune dysfunction, skin rash
45
lipidoses with CNS only (no eye, no bone marrow stuff, no HSM)
metachromatic leukodystrophy | - aryl-sulfatase
46
a-galactosidase
Fabry disease: X-linked, cloudy cornea
47
Hexosaminidase A
Tay-Sachs | - cherry red spot, CNS loss
48
Hypoglycemia and urine reducing substances
Galactosemia, fructose intolerance
49
hypoglycemia and abnormal acylcarnitine profile
Fatty acid oxidation defects
50
hypoglycemia after fasting
glycogen storage diseases | Type 1: hypoglycemia, lactic acidosis, elevated serum ketones and uric acid
51
inborn errors that lead to nonimmune hydrops
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
Hyperammonemia Metabolic acidosis Urine organic acids
Organic acidurias
53
Hyperammonemia Metabolic acidosis Lactic acidosis
Pyruavte metabolism defects or mitochondrial energy metabolism defects
54
Hyperammonemia | Abnormal plasma amino acids
Urea cycle defects
55
Metabolic acidosis Lactic acidosis Hypoglycemia
Glycogen storage diseases | Hereditary fructose intolerance
56
Metabolic acidosis Lactic acidosis Elevated lactate/pyruvate ratio
Pyruvate metabolism defects, mitochondiral energy metabolism defects

Inborn errors of metabolism (2 decks)

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