Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

ABP > IEM > Flashcards

IEM Flashcards

1
Q

Examples of organic acidemias

A

Methylmalonic acidemia
Propionic acidemia
Isovaleric acidemia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Presentation of organic acidemias

A

First 2 days of life (after getting protein) with “drunk-like” intoxicated picture

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Labs of organic acidemias

A

Metabolic acidosis, high anion gap
High ammonia
Ketonuria

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Most important lab to diagnose organic acidemias

A

Urine organic acid levels

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

MC fatty acid oxidation defect

A

Medium chain acyl-CoA dehydrogenase deficiency (MCAD deficiency)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Presentation of MCAD deficiency

A

Within first 2y after period of decrease PO intake (viral gastro) – hypoglycemia, hepatomegaly, seizures

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Labs of MCAD deficiency

A 
Hypoglycemia
NAGMA
High ammonia
High LFTs
NO ketones in urine
NO reducing substances in urine
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Definitive diagnosis of MCAD deficiency

A

Plasma acylcarnitine profile (in NBS)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Treatment of MCAD deficiency

A

IV 10% glucose, oral L-carnitine; avoid fasting

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Galactosemia presentation

A 
First week of life: 
Poor feeding, FTT
Hepatomegaly
Hypoglycemia
Lethargy
Hypotonia 
Jaundice
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Galactosemia labs

A

Hypoglycemia
Reducing substances in urine
Urine ketones
Hyperbili

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Galactosemia enzyme deficiency

A

Galactose-1-phosphate uridyltransferase (GALT)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

Galactosemia toxic substrate

A

Deficiency in GALT –> build up of Galactose 1-P

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Diagnose galactosemia

A

Measuring GALT in RBCs

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Infection risk in galactosemia

A

Gram negative organisms (E Coli sepsis)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

Metabolic disorder with risk of Gram negative sepsis

A

Galactosemia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

Treatment of galactosemia

A

Galactose-free diet (soy formula)

NO BREASTFEEDING

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

Metabolic disorder that is a contraindication to breastfeeding

A

Galactosemia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

Risk of not treating galactosemia

A

Cataracts
ID
Liver disease

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

Hypoglycemia, hepatomegaly, and positive reducing substances in urine

A

Galactosemia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

Other name for glycogen storage disease type 1

A

Von Gierke Disease

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

Other name for glycogen storage disease type 2

A

Pompe Disease

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

Presentation of Von Gierke

A

Infant starts sleeping through the night (prolonged fasting):
Hypoglycemia (+/- seizures)
Distended abdomen, hepatomegaly
Doll-like or cherubic face

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

Von Gierke labs

A 
Hypoglycemia
Lactic acidosis 
\+ Urine ketones
Negative urine reducing substances
Elevated TGs and cholesterol
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

Von Gierke treatment

A

Frequent meals/snacks, continuous NG feeds at night, cornstarch after age 2y

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

Cause of Von Gierke

A

Deficiency of hepatic glucose-6-phosphatase

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

Cause of Pompe

A

Deficiency of lysosomal breakdown of glycogen

Deficient activity of alpha-glucosidase

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
28
Q

Presentation of Pompe

A

Normal at birth

One month: Floppy, FTT, HM, cardiomegaly, macroglossia, respiratory failure

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
29
Q

One month old with hypotonia, hepatomegaly, cardiomegaly, macroglossia

A

Pompe (glycogen storage disease type II)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
30
Q

Cause of death in Pompe

A

Respiratory failure

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
31
Q

Urea cycle defects examples and how to differentiate

A
  1. ornithine transcarbamylase (OTC) deficiency - HIGH urine orotic acid
  2. carbamoyl phosphate synthetase (CPS) deficiency - Low/Normal urine orotic acid
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
32
Q

Urea cycle defects presentation

A 
Hyperammonemia (encephalopathy, vomiting, lethargy, coma)
Hypotonia
Coma
No acidosis (later: resp alkalosis)
No ketosis
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
33
Q

Urea cycle defects labs

A

High ammonia
No acidosis (normal pH, bicarb)
No ketosis

34
Q

Presentation of maple syrup urine disease (MSUD)

A 
Onset first week of life
Maple syrup smelling urine, ear wax
Tachypnea, shallow breathing
Lethargy, encephalopathy 
Irritability
Poor feeding
Hypertonicity 
Loss of Moro reflex
Seizures
Opisthotonos
35
Q

MSUD labs

A

HAGMA

Ketonuria

36
Q

MSUD: elevated plasma AAs

A

Valine
Isoleucine
Alloisoleucine
Leucine

37
Q

Which AA would be diagnostic of MSUD (always abnormal)

A

Alloisoleucine

38
Q

Treatment of MSUD

A

Branched chain AA restriction:
Valine
Isoleucine
Leucine

39
Q

Inheritance pattern of MSUD

A

AR

40
Q

Inheritance pattern of homocystinuria

A

AR

41
Q

Metabolic syndrome with Marfanoid-like appearance

A

Homocystinuria

42
Q

Defect in homocysinuria

A

Cystathionine synthase deficiency
Error in methionine metabolism
Elevated serum homocysteine and methionine
Elevated urine homocystine

43
Q

Metabolic disorder with increase risk of vascular thrombi (CVA, MI, PE)

A

Homocystinuria

44
Q

Diagnose homocystinuria

A

Homocystine in the urine

45
Q

Presentation of homocystinuria

A 
Mild ID
Aggressive
Marfanoid appearance
DOWNward displacement of lens
Fair complexion/hair/eyes
Pectus excavatum
Limited joint mobility
46
Q

Treatment of homocystinuria

A

Vitamin B6 (pyridoxine)
Diet low in methionine and protein
+/- Folate, B12 supplements

47
Q

Marfan vs homocystinuria

A

Marfan: ANTERIOR lens displacement, normal IQ
Homocystinuria: POSTERIOR/DOWN lens displacement, mild ID

48
Q

Inheritance pattern of PKU

A

AR

49
Q

Defect in PKU

A

Deficiency of phenylalanine hydroxylase
Buildup of phenylalanine
Low tyrosine

50
Q

Presentation of PKU

A 
Musty/mousy odor
Light hair/skin/eyes
Eczema
Vomiting, irritability 
ID
Seizures
Microcephaly
FTT
Dev delay
51
Q

PKU treatment

A

Diet low in phenylalanine and aspartame

52
Q

Complication of PKU treatment

A

You need some phenylalanine

Over treatment is a potential problem and you can get phenylalanine deficiency (lethargy, rash, diarrhea)

53
Q

Which AA becomes essential in PKU

A

tyrosine

54
Q

Lysosomal storage disorders

A

Mucopolysaccharidoses: Hurler, Hunter
Sphingolipidoses: Gaucher, Tay Sachs, Niemann-Pick

55
Q

MPS type I

A

Hurler

56
Q

MPS type II

A

Hunter

57
Q

Coarse facies with corneal clouding, severe ID

A

Hurler

58
Q

Inheritance of Hurler

A

AR

59
Q

Inheritance of Hunter

A

XLR

60
Q

Features of Hurler

A 
Progressive facial coarsening
Hirsutism
Corneal clouding
Severe ID
Dystosis multiplex (bone, cartilage defects)
Progressive hearing loss
Thick skin
Congenital dermal melanocytosis
Symmetric, white papules/nodules
Enlarged T/As--> obstruction--> cor pulmonale
Frequent URIs, thick secretions
Macrocephaly, thick skull
Hernias
Thickened heart valves
61
Q

Lab finding in Hurler

A

Reduced alpha-L-iduronidase activity in WBCs

62
Q

Lab finding in Hunter

A

Reduced iduronate sulfates enzyme activity in WBCs

63
Q

Features of Hunter

A 
Coarse facial features
Hepatosplenomegaly
Hearing deficits
Organomegaly
Joint contractures
"Pebbly" skin over upper back
Short stature
Cardiac: Valve dysfunction, myocardial hypertrophy
NO corneal clouding
64
Q

Gaucher Disease inheritance

A

AR

65
Q

Gaucher features

A 
HSM
Bone pain
Easy bruisability, nosebleeds
Short stature
Myoclonic seizures
Osteosclerosis, lytic bone lesions, "erlenmeyer flask"
66
Q

Gaucher labs

A

Thrombocytopenia

Can be pancytopenic

67
Q

Gaucher lab

A

Glucocerebrosidase activity in peripheral leukocytes

68
Q

Tay Sachs inheritance

A

AR

69
Q

Tay Sachs cause

A

Deficiency of hexosaminidase A activity (lysosomal enzyme)

70
Q

Tay Sachs presentation

A 
Normal until 9mo
Lethargy, hypotonia
Exaggerated startle (does not diminish with repeated stimuli)
Cherry red spot on retina
Macrocephaly
Progressive neuro deterioration 
Blindness
Seizures
Death by 5yo
71
Q

Populations Tay Sachs is common

A

Ashkenazi Jews
French Canadians
Cajuns

72
Q

Niemann-Pick presentation

A 
Hypotonia
V/d, FTT
CNS deterioration
Cherry red spot
HSM
Cause of death: respiratory failure by 2-3yo
73
Q

Tay Sachs v Niemann-Pick: similarities and differences

A

Both:
Cherry red spot
CNS deterioration

Niemann Pick: hepatosplenomegaly
Tay Sachs: NO HSM

74
Q

Adrenoleukodystrophy inheritance

A

XLR

75
Q

Adrenoleukodystrophy presentation

A 
Academic difficulty
Impulsivity
Behavioral difficulties
Gait abnormalities
Slurred speech
Hyperpigmentation 
Seizures
76
Q

Cause of adrenoleukodystrophy

A

Disorder of peroxisomal degradation of fatty acids –> accumulation of VLCFA in nervous system and adrenal glands

77
Q

Features of glutamic academia type 1 (GA1)

A

AR
Macrocephaly at birth
Nml dev until stressor (fever) –> hypotonia
Subdural hematoma
Retinal hemorrhages
CT/MRI: Frontal, cortical atrophy; increased extraaxial space; degeneration of caudate nucleus and putamen

78
Q

Menkes disease features

A 
Kinky hair disease
XLR
Impaired copper absorption and transport 
Marked ID
Skeletal, vascular abnormalities 
Decreased copper levels
79
Q

Smith-Lemli-Opitz syndrome (SLOS) features

A 
AR
Disorder of cholesterol metabolism
Accumulation of 7-dehydrocholesterol
Decreased total plasma cholesterol 
Microcephaly with narrow bifrontal diameter
Hypertelorism, ptosis, epicanthal folds
Cleft palate
Micrognathia
Low ears
2/3 toe syndactyly
Hypospadias, ambiguous genitalia
SGA
Strabismus, cataracts
Single transverse palmar crease
Hypoplastic L heart
80
Q

Tyrosinemia type 1 features

A 
Hepatorenal tyrosinemia 
AR 
FTT
Hepatomegaly, hepatoblastoma, liver failure
Renal dysfunction, RTA
XR findings of rickets
Increased plasma tyrosine
Increased urine succinylacetone (toxic compound)
Tx: NTBC / nitisinone
81
Q

Lesch-Nyhan syndrome features

A

XLR (Males)
Deficiency of hypoxanthine guanine phosphoribzosyltransferase (HGPRT)
Nml at birth
By 3-6mo: FTT, hypotonia, irritable, abnormal posturing, self mutilation, dev delay
Renal stones, gout (excess uric acid)

ABP (3 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions