Brainscape's Knowledge GenomeTM


Top Flashcards (Certified)
All Flashcards

Pediatrics > Inborn Errors Of Metabolism > Flashcards

Inborn Errors Of Metabolism Flashcards

0
Q

Mode of inheritance: Adrenoleukodystrophy

A

X linked

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

Mode of inheritance: OTC deficiency

A

X linked

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

Mode of inheritance: Hunter Syndrome

A

X linked

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

Mode of inheritance: Lesch Nyhan

A

X linked

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

Mode of inheritance: Menkes Disease

A

X linked

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

Most common disorder of amino acid metabolism

A

PKU

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

Decreased hair and skin pigmentation

A

PKU

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

Musty or mousy odor

A

PKU

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Elevated methionine

A

Homocystinuria

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

Tx for Homocystinuria

A

Pyridoxine

Low methionine diet

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

Accumulation of succinylacetone

A

Tyrosinemia type 1

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Hiccups in utero

A

Nonketotic hyperglycinemia

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

Neonatal seizures and apnea requiring intubation

A

Nonketotic hyperglycinemia

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

Glycine accumulates in all tissue esp. brain

A

Nonketotic hyperglycinemia

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

Hyperammonemia, increased glutamine, no ketones

A

Urea cycle defect

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

Respiratory alkalosis

A

Urea cycle defect

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

High orotic acid

A

OTC deficiency

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

Trichorrhexis nodosa

A

Argininosuccinic Aciduria

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

UOA with elevations of lactic acid and MMA

A

Methylmalonic Aciduria

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

Metabolic acidosis and elevated anion gap

A

Organic acidemia

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

Hyperammonemia, ketoacidosis, hypoglycemia

A

Organic acidemias

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

Tx: low protein diet

A

Organic acidemias and urea cycle defects

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

Mennonite

A

MSUD

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

Elevated valine, isoleucine, and leucine

A

MSUD. Alloisoleucine is diagnostic.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Sweaty feet odor
Isovaleric acidemia
25
Causes retinal hemorrhages and subdural hematomas (not shaken baby syndrome)
Glutaric acidemia type 1
26
Pancreatitis, dermatitis, pancytopenia, cardiomyopathy, and ketotic hyperglycinemia
Propionic Acidemia
27
Hyperbilirubinemia
Galactosemia
28
Deficiency in GALT
Galactosemia
29
E. Coli sepsis
Galactosemia
30
Positive urine reducing substances
Galactosemia, hereditary fructose intolerance
31
Tx: galactose and lactose free diet (switch to soy formula)
Galactosemia
32
Presents at 6 months with introduction of fruit juices
Hereditary fructose intolerance
33
Tx: diet without sucrose, fructose, and sorbitol
Hereditary fructose intolerance
34
Hypoketotic hypoycemia, hyperuricemia, hyperammonemia, dicarboxylic aciduria, acidosis
Fatty Acid Oxidation defect
35
Fasting induced vomiting, lethargy, seizures, coma. On NBS elevated C8, C8:1 and C10:1 esters
Medium Chain Acyl CoA Dehydrogenase Deficiency (MCAD)
36
Most common fatty acid oxidation defect
MCAD
37
Can't make glycogen
GSD 0
38
Defect in breaking down glycogen due to glucose 6 phosphatase deficiency
GSD 1
39
Fasting hypoglycemia at 3-4 months of age, hepatomegaly, seizures, doll like facies, protuberant abdomen
Glycogen Storage Disease Type 1
40
Hypoglycemia, lactic acidosis, hyperuricemia, hyperlipidemia, elevated liver enzymes, lots of ketones
Glycogen Storage Disease
41
Tx for GSD
Continuous NG feeds overnight or cornstarch feeds at night
42
AR, muscle cramps in teen with rapid exercise, elevated CK even at rest, myoglobinuria, second wind phenomenon
McArdles Disease (GSD 5)
43
Mitochondrial encephalomyopathy with lactic acidosis and stroke like symptoms
MELAS
44
Myoclonic epilepsy and ragged red fibers
MERRF
45
Leigh's Syndrome
Mitochondrial disorder
46
May have elevated proline, alanine, pyruvate, lactate
Mitochondrial disorder
47
No ketones in urine
Fatty acid oxidation defect
48
Glycogen accumulates in lysosomes, cardiomegaly in infantile form
Pompe's (GSD 2, but actually a lysosomal storage disorder)
49
Defect in catabolism of glycosaminoglycans. Accumulation of dermatan sulfate, heparin sulfate, keratan sulfate
MPS
50
Coarse facies, bone changes (dysostosis multiplex), joint stiffness, macrocephaly, hernias, corneal clouding, MR
MPS
51
Coarse face, large tongue, frequent URI, inguinal and umbilical hernia, OSA, deafness, corneal clouding.
MPS 1. Hurler's. AR
52
No corneal clouding. X linked
MPS 2, Hunters
53
Sphingolipidoses
Tay Sachs Disease
54
Deficiency of Hexoaminidase A, accumulation of GM2 gangliosides in neurons
Tay Sachs Disease
55
Cherry red macule, exaggerated startle
Tay Sachs
56
Mode of inheritance: Tay Sachs
AR
57
Glucocerebrosidase Deficiency
Gaucher Disease
58
HSM, thrombocytopenia, anemia, leukopenia, Erlenmeyer flask deformity
Gaucher disease
59
Sphingomyelinase deficiency
Niemann Pick
60
Enlarged liver and spleen, FTT, progressive nervous system deterioration
Niemann Pick type A
61
Defective transport in cystine out of lysosome, crystallizes in lysosomes causing cell damage
Cystinosis
62
FTT with renal Fanconi, kidney failure, light sensitivity
Cystinosis
63
Cholesterol biosynthesis disorder
Smith Lemil Opitz Syndrome
64
Microcephaly, anteverted nares, ptosis, cleft palate, 2-3 toe syndactyly, hypospadias, MR
Smith Lemil Opitz Syndrome
65
Tx for Smith Lemil Opitz
Dietary cholesterol and bile acid supplements
66
Deficiency of hypoxanthine guanine phosphoribosyltransferase
Lesch Nyhan
67
Elevated uric acid, x linked recessive
Lesch Nyhan
68
2-3 year old male with self mutilation, developmental delay, renal stones, gout
Lesch Nyhan
69
Purine disorder
Lesch Nyhan
70
No copper uptake into liver, deficiency of copper
Menkes
71
Kinky hair
Menkes
72
Hypotonia, failure to meet milestones, kinky hair, seizures
Menkes
73
Mode of inheritance: Menkes
X linked
74
Take up too much copper
Wilson's disease
75
Mode of Inheritance: Wilson's
AR
76
Kayser Fleischer rings, psych disorder, liver dysfxn
Wilson's
77
7 dehydrocholesterol
Smith Lemil Opitz
78
Acid Maltase
Pompe's

Pediatrics (20 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2025 Bold Learning Solutions. Terms and Conditions