Brainscape's Knowledge GenomeTM

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


See full index

Boards > Inborn Errors of Metabolism > Flashcards

Inborn Errors of Metabolism Flashcards

1
Q

Incidence of inborn errors of metabolism

A

1/2000

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

IEM with alopecia

A

biotinidase deficiency

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

IEM with brittle hair

A

arginosuccinic lyase deficiency
arginosuccinic acid synthetase deficiency
Menkes

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

IEM with cardiomyopathy

A

LCHAD deficiency
glutaric aciduria II
carnitine deficiency
Pompe
mitochodrial
mucoplipodoses (I cell disease)

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

IEM with Cataracts

A

Galactosemia
galacokinase deficiency, mevalonic aciduria

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

high forehead, flat orbital ridges, open AF, epicanthal folds, flat nasal bridge

A

Zellweger

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

large AF, high forehead, hypertelorism, epicathal fold, long philtrum, low set ears

A

mevalonic aciduria

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

coarse facial features

A

mucopoloysacharidoses

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

IEM hydrops

A

G6PD
lysosomal
GSD type IV

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

IEM thromboemboli

A

homosystinuria

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

Sweaty feet

A

isovaleric aciduria
glutaric aciduria II

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

Hyperammonemia

A

think UCD

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

++ NH4, ++ acidosis, ++ ketones

A

propionic/methylmalonic/isovaleric acidurias
lactic acidemia
glutaric aciduria
pyruvate carboxylase deficiency
beta methylcrotonyl glycinuria

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

++ NH4, ++ acidosis, no ketones

A

FAO

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

++ NH4, no acidosis, no ketones, normal citrulline, no arginosuccinic acid, normal arginine

A

transient
lysine protein intolerance

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

++metabolic acidosis, high anion gap, normal lactate , ++ organic acids

A

organic acidemia

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

++metabolic acidosis, high anion gap, ++ lactate , ++ organic acids

A

organic acidemia
FAO defect

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

++metabolic acidosis, high anion gap, ++ lactate , normal organic acids, ++pyruvate (normal lactate:pyruvate)

A

glucose low: glycogen storage or fructose intolerance

glycose normal: pyruvate dehydrogenase deficiency, pyruvate carboxylase deficiency, mitochondrial

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

++metabolic acidosis, high anion gap, ++ lactate , normal organic acids, normal pyruvate (++ lactate:pyruvate)

A

pyruvate carboxylase deficiency
mitochondrial

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

hypoglycemia, ++ reducing substances

A

galactosemia
tyrosinemia
hereditary fructose intolerance

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

hypoglycemia, NO reducing substances, ++ ketones, ++ lactate

A

GSD
fructose 1,6 bisphosphonate deficiency
phosphoenol pyruvate carboxykinase deficiency

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

hypoglycemia, NO reducing substances, ++ ketones, normal lactate

A

abnormal urine organic acids: organic acidemia, MSUD, propionic or MMA aciduria

normal urine organic acids: GH, corisol deficiency; succinyl coA deficiency, SCHAD

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

hypoglycemia, absent reducing substances, low ketones, low insulin

A

FAO
3 hydroxymethylglutaryl coA lyase deficiency
do of glycosylation
SCHAD

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

hypoglycemia, no acidosis, no beta OHB, ++ FFA

A

FAO

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

hypoglycemia, no acidosis, ++beta OHB, ++ FFA

A

hyperinsulinism

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

hypoglycemia, ++ acidosis, ++ beta OHB

A

GH or cortisol deficiency
GSD

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

hypoglycemia, ++ acidosis, ++ lactate

A

fructose 1,6 bisphosphatase deficiency
phosphoenol-pyruvate carboxykinase deficiency

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

urine male cat odor

A

3 methylcrotonyl glycinuria

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

musty urine

A

pku

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

acetonuria

A

organic acidemias

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

dinitrophenylhydrazine urine test

A

MSUD, pku, tyrosinemia, histidinemia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
32
Q

ferric chlorine urine test

A

blue-green: PKU, histidinemia
green-gray: MSUD
green: tyrosinemia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
33
Q

nitroanilline urine test

A

methylmalonic aciduria

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
34
Q

nitroprusside urine test

A

homcystinuria

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
35
Q

urine pterins

A

BH4 if normal DHPR activity or
DHPR deficiency

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
36
Q

risk of premature ovarian failure

A

galactosemia even if treated

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
37
Q

what are the 4 types of GSD?

A
  1. liver with direct effect on blood glucose: 1, 6,8
  2. muscle affecting anaerobic work: 5,7
  3. liver and muscle: III
  4. various tissues without affecting blood glucose or anaerobic work: 2,4
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
38
Q

type 1 GSD

A

von Gierke/G6P
hepatic tumor risk, bleeding risk

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
39
Q

type 2 GSD

A

Pompe/lysosomal a-glucosidase

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
40
Q

type 3 GSD

A

Forbes/debranching enzyme amylo-1,6 glucosidase

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
41
Q

type 4 GSD

A

Anderson/branching enzyme

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
42
Q

type 5 GSD

A

McArdles/muscle phosphorylase

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
43
Q

type 6 GSD

A

Hers/liver phosphorylase

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
44
Q

type 7 GSD

A

Tarui/muscle phosphoro fructokinase

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
45
Q

type 8 GSD

A

phosphorylase kinase

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
46
Q

Lactose pathway

A

Lactose (Lactase) galactose + glucose (galactokinase) galactose1P+UDP glucose (GALT) UDP +G1P

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
47
Q

Fructose pathway

A

fructose (fructokinase) F1P (F1P aldolase - liver intestines kidney) glyceraldehyde and dihydroxyacetone

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
48
Q

UCD

A

glutamate (n acetyle glutamate synthase - with acteyl CoA + ammonia) N-ag (carbamoyl phosphate synthase) CP (OTC) citrulline (arginosuccinic acid synthase) arginosuccinic acid (AS lyase) arginine (arginase) ornithine + urea

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
49
Q

CP breakdown

A

CP > carbamyl aspartate > orotic acid > pyrimidines

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
50
Q

which UCD product goes out and in of mitochondria

A

citrulline and ornithine

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
51
Q

NH4 scavengers

A

benzoate and phenylacetate

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
52
Q

if early cycle defects what can you supplement?

A

citrulline or for N-ag synthetase deficiency can give N-carbamyl L glutamate

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
53
Q

how does lactulose help UCD?

A

intestinal bacteria turn lactulose to lactic acid and the low pH inhibits NH4 absorption`

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
54
Q

MSUD deficiencies:

A

ketoacid dehydrogenases limiting the breakdown of branched chain AA (leucine, isoleucine and valine)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
55
Q

PKU pathway

A

phenyalanine (phenylalanine hydroxylase) tyrosine

  1. dopamine via tyrosine hydroxylase
  2. phenylpyruvate + fumarylacetoacetate to fumarate + acetoacetate via fumarylacetoacetate hydrolase

hydroxylases need BH4

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
56
Q

differentiate types of tyrosinemia

A
  1. hepatorenal (also heart and bones), Faa hyrolase deficiency
  2. oculocutaneous + neuro, tyrosine degradation defect
  3. neuro, tyrosine degradation defect
    transient: late fetal maturation of tyrosine pathway, some neuro impact
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
57
Q

treatment of tyrosinemia

A

diet low in phenlyalanine, tyrosine, methionine
nitisinone *** prevents phenylalanine breakdown decreasing toxic compounds
if no response may need liver tx
ascorbic acid helps transient type

58
Q

nititisone decreases risk of____

A

hepatocellular carcinoma

59
Q

++ methionine, ++ homocysteine

A

homocysteinuria = cystathionine beta ssynthase deficiency

60
Q

++ methionine, normal homocysteine

A

MAT, GMT, AH deficiency

61
Q

no methionine, ++ homocysteine, normal MMA

A

MTHFR or Cobalamin deficiency

62
Q

no methionine, ++ homocysteine, ++ MMA

A

cobalamin deficiency

63
Q

treatment of homocysteinuria

A

B6 and B12, decrease methionine, increase cysteine
vit C for endothelial function

64
Q

nonketotic hyperglycinemia pathway

A

BH4 + glycine –> methylene tetrahydrofolate + NH4 + CO2

65
Q

nonketotic hyperglycinemia symptoms

A

in utero hiccups and seizures, burst suppression EEG –> then hypsarrhythmia, elevated CSF glycine

66
Q

Treatment in nonketotic hyperglycinemia

A

benzoate
dextromethorphan - NMDA anatagonist may help neuro
variable response to ketogenic diet

67
Q

histidinemia pathway

A
  • histidase deficiency
  • urine histidine and imidazole pyruvic acid
  • ferric chloride to urine - turns blue green
68
Q

cystinuria pathway

A

defect in AA transport –> cysteine deficiency

69
Q

cystinuria diagnosis

A

nitroprusside test;

70
Q

cystinuria treatment

A
  • alkalinize urine
  • restrict methionine
  • thiol drugs (d-penicillamine, mercaptopropionylglycine)
71
Q

lysinuric protein intolerance

A
  • abnormal AA transport across cell membrane
  • deficiency lysine arginine and ornithine
  • hyperammonemia with lysinuria
  • low serum lysine
72
Q

lysinuric protein intolerance treatment

A

citrulline
sodium benzoate or sodium phenylbutyrate
carnitine
cholesterol if hypercholesterolemia
treat crisis like UCD

73
Q

lysinuric protein complications

A

renal

74
Q

leucine metabolism defects

A

isovaleric acidemia
3 methylcrotonyl glycinuria

** pathway requires biotin **

75
Q

isovaleric acidemia diagnosis

A
  • c5 acylcarnitine
  • urine isovalerylglycine and isovaleric acid
  • skin fibroblasts with decreased isovaleryl coa dehydrogenase activity
76
Q

isovaleric acidemia treatment

A
  • l carnitine and glycine
  • limit protein
  • treat nh4
77
Q

isoleucine metabolism defects

A

proprionic aciduria
methylmalonic aciduria

78
Q

lysine and tryptophan defects

A

glutaric aciduria type 1 (riboflavin B2 dependent)

79
Q

diagnosis glutaric aciduria type 1

A

low enzyme activity in skin fibroblasts

80
Q

neuroimaging in glutaric aciduria

A

frontotemporal atrophy and demyelination

81
Q

abnormal C4-C5

A

SCHAD

82
Q

abnormal C6, C8, C10:1

A

MCHAD

83
Q

abnormal C16:1-OH, C16-OH, C18:1-OH, C18-OH

A

LCHAD

84
Q

C14:1, C14:2, C16:1, C18:1

A

VLCHAD

85
Q

dysostosis multiplex

A

mucopolysaccharidoses

86
Q

types of mucopolysacchridosis

A

MPS 1 Hurler: a-iduronidase
MPS 2 Hunter iduronidase 2-sulfatase
MPS 3 Sanfilipo degrading heparain sulfates
MPS 4: Morquio galactosamine 6 - sulfate sulfatase
MPS VI Maroteaux Lamy N-acetylgalactosamine-4-sulfatase
MPS VII Sly b-glucuronidase

87
Q

mucopolysacchridosis triad

A
  1. dysostosis multiplex
  2. Alder-Reilly bodies in WBCs
  3. urine mucopolysaccharides
88
Q

HSM, cherry red spot and CNS in
Gaucher 1, Niemann Pick A, Tay-Sachs

A

Gaucher:++ HSM, no cherry red spot and no CNS

Niemann: ++ HSM, +++ cherry red spot and ++ CNS

Tay-Sachs no HSM, ++ cherry red spot and ++ CNS

89
Q

Mitochondrial disorders

A

lactate dehydrogenase
pyruvate carboxylase
pyruvate dehydrogenase
respiratory chain disorders (Avoid valproic acid and barbiturates)

90
Q

Cholesterol synthesis disorders

A

mevalonic aciduria
smith-lemli-opitz
bile acid disorders

91
Q

increase humidity ___
double walled___
plastic heat shields ___
portholes ___
rubber foam mattress___
plastic film___

A

evaporative
radiant
radiant
convective
conductive
convective and evaporative

92
Q

wilsons dx and tx

A

low ceruloplasmin
d penicillamine to chelate copper

93
Q

menkes dx and tx

A
  • low ceruloplasmin
  • low copper
  • parenteral copper histidine
94
Q

zellweger dx and tx

A

increased C22, C24 and C26
increased methyl branched FAs (phytanic and pristanic acids)
increased bile acid
decreased plasmalogen
skin fibroblasts
DNA testing

tx: supportive, vit K supplement, bile acid therapy

95
Q

abnormal posturing a/w which IEM

A

glutaric acidemia type 1

96
Q

major nonenzymatic intracellular antioxidant

A

glutathione

97
Q

most abundant free radical

A

superoxide anion

98
Q

Presentation of IEM

A
  1. intoxication
    - acute encephalopathy
    - chronic encephalopathy
    - acid based disturbances
  2. energy deficit
    - problems making
    - problems using
  3. complex molecule
99
Q

key strategy in acute encephalopathy IEM

A
  • stop catabolism; provide adequate calories
  • dilute toxins and promote excretion with hydration
  • hemodialysis if severe
100
Q

common examples leading to chronic encephalopathy

A

PKU and homocystinuria

101
Q

IEM categories that present as intoxications

A
  • AA disorders
  • Urea Cycle defects
  • Organic acidurias
  • Sugar intolerances
102
Q

AA disorder labs

A
  • plasma amino and urine OA
  • metabolic acidosis with urine ketones
  • increased AG
103
Q

UCD labs

A
  • +++ NH4 plasma
  • minimal metabolic acidosis
  • respiratory alkalosis
  • no liver dysfunction
  • no ketoacidosis
104
Q

Organic aciduria labs

A
  • metabolic acidosis w/ urine ketones
    • NH4
    • glycine
  • abnormal urine OA
  • increased AG
105
Q

sugar intolerance labs

A
  • NBS
  • urine OA
  • liver enzyme analysis
106
Q

Order of energy use in fasting

A
  1. blood glucose
  2. breakdown glycogen
  3. FAO
  4. breakdown AA
107
Q

Categories of energy deficit disorders

A
  • FAO
  • glycogen storage
  • mitochondrial
108
Q

Presentation of FAO

A
  • hypoketotic hypoglycemia
  • hypotonia
  • cardiomyopathy
  • SIDS
  • Reyes
109
Q

Presentation of glycogen storage

A
  • hepatomegaly
  • hypoglycemia
  • lactic acidosis
  • FTT
110
Q

Presentation of mitochondrial disorder

A
  • lactic acidosis
  • seizure
  • cardiomyopathy
  • hypotonia/myopathy
  • +/- hypoglycemia
111
Q

Presentation of complex molecule disorders

A
  1. progressive dysmorphic/coarse facies
  2. severe bone dysplasia
  3. neurologic
112
Q

Types of complex molecule defects

A
  • lysosomal storage
  • peroxisomal diseases
  • intracellular trafficking and processing
  • IE of cholesterol synthesis
113
Q

what complex molecules do lysosomes deal with

A
  • glycosaminoglycans
  • glycoproteins
  • gangliosides
  • glycolipids
114
Q

what complex molecules do peroxisomes deal with

A
  • bile acid and plasmalogen synthesis
  • oxidation of VLCFA
  • degradation of phytanic and pipecolic acids
115
Q

genetics of AA metabolis is normally what type?

A

single gene defects

116
Q

PKU pathophys

A
  • defect in phenylalanine hydroxylase
  • AR
  • gene 12q24.1
  • +++ plasma phenylalanine
  • +++ urine phenylpyruvic acid
117
Q

treatment PKU

A

limit phenylalanine

some forms may benefit from biopterin and 5 hydroxytryptophan and dopa (biogenic amine precursors)

118
Q

tyrosinemia types

A
  • transient
  • type 1: succinylacetone buildup, FTT, hepatic adenomas>hepatic blastoma, RTA, rickets, NOT NDI
    »>treatment: NTBC - prevents tyrosine breakdown to succinylacetone (toxic)
  • type 2: deficiency of tyrosine aminotransferase, corneal ulcers, keratitis, tyrosine build up only
    »> treat: low tyrosine
  • type 3: 4 hydroxyphenypyruvate deioxygenase (RARE)
    »> treat: low tyrosine
119
Q

alkaptonuria

A
  • deficiency homogentistic acid dioxygenase (3rd step tyrosine metabolism)
  • tyrosine NOT elevated
  • dark colored urine
  • ochronosis (pigment deposits in ears and sclera), aortic root dilation
  • good prognosis
120
Q

MSUD

A
  • AR
  • symptoms DOL 3-5
  • feeding difficulties, irregular RR, loss of Moro, seizures, neuro
  • +++ plasma and urine leucine, lysine, valine
  • alloisoleucine is diagnostic
    »> tx: diet
121
Q

glutaric aciduria type I

A
  • AR
  • lysine, hydroxylysine and tryptophan catabolism
  • chr19
  • macrocephaly at birth
  • normal development until stress (illness or metabolic stress), sudden hypotonia or dystonia
  • frontal or cortical atrophy
122
Q

diagnosis of glutaric aciduria type 1

A
  • urine OA: increased glutaric and 3-hydroxyglutaric acids
  • low carnitine
123
Q

treatment of glutaric aciduria type 1

A
  • L - carnitine
  • riboflavin
  • diet
  • IVF with glucose when ill
124
Q

homocystinuria pathophy

A
  • AR
  • chr 21q
  • cystathione beta-sythetase deficiency
  • marfanoid
  • NDI
  • lens dislocation down
  • atherosclerosis
125
Q

treatment of homocystinuria

A

pyridoxine
low methionine diet
betaine - helps convert homocysteine back to methionine

126
Q

nonketotic hyperglycinemia

A
  • AR
  • intractable seizures
  • hiccups in utero
  • Dx: increased glycineCSF : glycineplasma
  • Tx: sodium benzoate may help decrease CSF glycine
127
Q

determining level of UCD

A

check plasma levels
1. arginine = low in all, except argininemia
2. citrulline = low then its OTC or CPS
3. urinary orotic acid = elevated in OTC, but normal/low in CPS and NAGS

128
Q

types of organic acidemia

A
  • isovaleric acidemia sweaty feet
  • 3-methylcrotonyl coA carboxylase
  • propionic acidemia - valine, methionine, isoleucine, threonine
  • carboxylase - (these ones need biotin)
  • methylmalonic acidemias

Dx: check urine
Tx: limit protein, carnitine helps

129
Q

fatty acid pathway

A

FAO major source of energy in skeletal muscle and heart

  1. FA conjugated to carnitine
  2. carnitine-FA transported across mitochondrial membrane
  3. released as an acyl-Coa
  4. catabolized in Beta oxidation
130
Q

Types of FAO

A
  • reducing carnitine uptake
    » primary carnitine deficiency
  • inhibit FA from entering mitochondria
    »carnitine palmitoyltransferase I and II and carnitine acylcarnitine translocation defects
  • block beta oxidation
    » VLCAD, MCAD, LCHAD
    » glutaric acidemia type 2 - defect in electron transfer flavoprotein and ETF:ubiquinone oxidoreductase
131
Q

GSD types

A

hypoglycemia and hepatomegaly
1. (von Gierke; glucose 6 phosphatase)
3. (cori; debrancher)
4. (Anderson; branching enzyme; amylopectinosis)
6. (Hers)
9. (liver phosphorylase kinase deficiency)
0. (glycogen synthase)
11. (hepatic glycogenesis + Fanconi; Glut2)

muscle problems
5. (McArdles, muscle phosphorylase)
7. (Tarui, muscle phoshofructokinase)
2. (Pompe, lysosomal acid glucosidase deficiency, a1,4 glucosidase deficiency, acid maltase deficiency) accumulates in lysosomes unlike others in cytoplasm

132
Q

Galactosemia diagnosis

A

suspect with reducing substance in urine
definitive diagnosis is deficient GALT

133
Q

if sugar intake causes hypoglycemia think ___

A

fructose 1,6 bisphosphate aldolase deficiency

134
Q

mitochondrial disorders

A
  • Kearns Sayre and Chronic Progressive External Ophthalmoplegia: ptosis, ophthalmoplegia, ragged red fiber myopathy
  • MERRF: epilepsy, cerebellar ataxia. ragged red fiber myopathy
  • MELAS - lactic acidosis, stroke like, cerebellar ataxia before stroke
  • Leigh syndrome: cranial nerve findings and respiratory

Dx: southern blot, greatly reduced mitochondrial dna

135
Q

Mucopolysaccharidoses

A
  • defect in catabolism of glycosaminoglycans by lysosomal enzymes

MPS I: Hurler; a-L iduronidase 4p14.3, atlantoaxial subluxation, coarse facies, midface hypoplasia, large tongues, hernias, corneal clouding, cardiomyopathy

MPS 2: Hunter: XL, nodular rase on scapulae and extensor surfaces, hernias, coarse facies, HSM

MPS 3: Sanfilippo: chr 17, heparan sulfatase

MPS4: Morquio: galactose 6- sulfatase; defective keratan sulfate degradation; spondyloepiphyseal

136
Q

Mucolipidosis

A

I. Cherry red spot myoclonus snydrome
2. I cell deficiency
3. Pseudohurler

137
Q

Sphingolipidoses

A
  • build up of ceramide, oligosaccharide (glycosphingolipid) or phosphorylcholine (shingomyelin)
  • neonatal: gaucher type 4
  • age 1-6 months: gaucher type 2, niemann pick type A

enzyme replacement help skeletal issues not neuro

138
Q

peroxisomal disorders

A

Zellweger
infantile Refsum
neonatal adrenoleukodystrophy

139
Q

menkes

A

XL
ATP7a
impaired copper uptake
progressive neuro deterioration
seizures
subdural hemorrhage
retinal hemorrhages
Dx: low serum copper and ceruloplasmin; need to also measure dopamine beta hydroxylase

140
Q

smith lemli opitz

A

AR
7 dehydrocholesterol reductase deficiency
Dx: 7 dehydrocholesterol will be elevated, cholesterol low normal
- 2/3 syndactyly, cleft palate, microcephaly/hypertelorism, abnormal GU

141
Q

porphyrias

A

enzyme defect in heme synthesis

hepatic
- acute intermittent (AIP) AD, HMB synthetase
- porphyria cutanea tarda (MCC), hepatic URO- decarboxylase

erythropoeitic
- XL sideroblastic anemia; sideroblasts, urine porphyrin normal Dx: ALA synthase gene mutation
- erythropoietic protoporphyria; ferrochelatase; protophyrin buildup

Boards (16 decks)

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