Metabolic & Nutritional

Question 1

T/F: The neonate’s nervous system functions essentially at a brainstem-spinal level.

Answer 1

True

Question 2

This is the first indication of disordered nervous system function.

Answer 2

Seizures

Question 3

T/F: It is important to note that the three most frequently identified hereditary metabolic diseases-PKU, hyperphenylalaninemia and congenital hypothyroidism-become clinically manifest in the neonatal period.

Answer 3

False (do not become clinically manifest)

Question 4

Mutation of the Pyridoxine-dependent seizures

Answer 4

ALDH7A1 gene

Question 5

T/F: Patients with increased concentrations of serum phenylalanine in the neonatal period usually have a defect in biopterin metabolism.

Answer 5

True

Question 6

Marked restriction of this dietary protein may prevent attacks of ketoacidosis.

Answer 6

Leucine

Question 7

Characterized with sweaty foot syndrome

Answer 7

Isovaleric acidemia

Question 8

Among the six diseases caused by inborn deficiencies of the enzymes of the Krebs-Henseleit urea cycle, which is X-linked dominant?

Answer 8

Ornithine transcarbamylase (OTC) deficiency

Question 9

The hallmark of all the hereditary metabolic diseases

Answer 9

Psyvhosensorimotor regression

Question 10

Deficiency of bothhexosaminidase A&B which affects infants of non-Jewish origins

Answer 10

Sandhoff disease

Question 11

Rare autosomal disorder based on a mutation in ASAH1

Answer 11

Lipogranulomatosis

Question 12

A distinctive disease with GFAP mutation giving rise to Rosenthal fiber inclusions.

Answer 12

Alexander disease

Question 13

Characterized with acidosis with an anion gap and high serum lactate levels and hyperalaninemia

Answer 13

Congenital Lactic Acidosis

Question 14

Disease which demonstrates a five-fold increase of very long chain fatty acids particularly hexacosanoic acid

Answer 14

Cerebrohepatorenal (zellweger) disease

Question 15

The most common form of zellweger syndrome is due to what mutation?

Answer 15

Mutation in PEX1

Question 16

The abnormal gene is located on chromosome Xq25.26 characterized with bilateral cataracts.

Answer 16

Oculocerebrorenal (Lowe) syndrome

Question 17

A rare disorder which may show a combination of intracerebral hemorrhage and metaphysial bone spurs

Answer 17

Menkes disease

Question 18

T/F: Indicative of predominantly white matter affection (leukodystrophy) are early onset of spastic paralysis of the limbs with or without ataxia, and visual impairment with optic atrophy but normal retina.

Answer 18

True

Question 19

T/F: indicative of gray matter disease (poliodystrophy) are the early onset seizures, myoclonus, blindness with retinal changes snd mental regression.

Answer 19

True

Question 20

What proportion of patients with PKU are slightly microcephalic?

Answer 20

2/3

Question 21

The Guthrie test will yield what cold in patients with PKU?

Answer 21

Emerald-green

Question 22

The most severe form of this disease is caused by a mutation in the gene that codes for fumarylacetoacetate hydrolase

Answer 22

Hereditary tyrosinemia

Question 23

The clinical features consist of an intermittent red, scaly rash over the face, neck, hands and legs resembling that of pellagra

Answer 23

Hartnup disease

Question 24

The abnormality is the mutation of the gene for arylsulfatase A which prevents the conversion of sulfatide to cerebroside.

Answer 24

Metachromatic Leukodystrophy

Question 25

The primary mutation in the infantile form is in the PLA2G6 gene

Answer 25

Neuroaxonal dystrophy

Question 26

The first sign of juvenile GM1 gangliosidosis

Answer 26

Difficulty in walking

Question 27

What is the fundamental defect of adrenoleukodystrophy?

Answer 27

Impairment in peroxisomal oxidation of very long chain fatty acids (VLCFAs)

Question 28

Hexosaminidase is the deficient enzyme in which IEM disease?

Answer 28

Tay-Sachs

Question 29

T/F: diseases with a dominant mode of inheritance tend to be less severe and less rapidly progressive.

Answer 29

True

Question 30

Treatment in infantile opsoclonus-myoclonus syndrome

Answer 30

Dexamethasone

Question 31

The salient clinical features of the later-onset types are severe myoclonus, seizures and visual loss.

Answer 31

Juvenile Ceroid Lipofuscinosis (cerebroretinal degeneration; batten disease)

Question 32

This is a genetically distinct class of disease characterized by the storage in nervous tissue of sialylated glycopeptides caused by neuraminidase deficiency

Answer 32

Cherry-Red Spot-Myoclonus Syndrome

Question 33

Vacuolated cells in the bone marrow seen in Infantile Niemann-Pick Disease

Answer 33

Foam cells

Question 34

T/F: A notable feature of Wilson disease is the tendency for the motor disorders to be concentrated in the bulbar musculature.

Answer 34

True

Question 35

How many percent of patients with wilson disease in the purely hepatic stage present with kayser-fleischer rings?

Answer 35

25%

Question 36

Part of the basal ganglia most frequently involved in wilson disease

Answer 36

Putamen

Question 37

Essentially, it is a hereditary choreoathetosis with self mutilation and hyperuricemia

Answer 37

Lesch-Nyhan Syndrome

Question 38

This is an idiopathic form of calcification of the basal ganglia and cerebellum in which choreoathetosis and rigidity are prominent acquired features

Answer 38

Fahr Disease

Question 39

Main differential diagnosis in adrenoleukodystrophy

Answer 39

Multiple sclerosis

Question 40

Aminoaciduria is inherited as an autosomal recessive trait which simulates Marfan disease.

Answer 40

Homocystinuria

Question 41

This disease is also known as anhiokeratoma corporis diffusum

Answer 41

Fabry disease

Question 42

The primary deficit is in the enzyme alpha-galactosidase A

Answer 42

Fabry Disease

Question 43

T/F: A useful principle in recognizing those adolescents with a metabolic brain disease is that sooner or later, such a condition will cause a regression in cognitive and intellectual functions.

Answer 43

True

Question 44

T/F: The combination of progressive ptosis and symmetrical ophthalmoplegia is a common manifestation of mitochondrial disease.

Answer 44

True

Question 45

Normal serum osmolality

Answer 45

270-290 mOsm/L

Question 46

In total cerebral ischemia, the tissue is depleted of its sources of energy in about how many minutes?

Answer 46

5 minutes

Question 47

The most common early imaging change in cases of severe anoxic encephalopathy

Answer 47

Loss of the distinction

Question 48

Represents the most severe degree of hypoxia

Answer 48

Brain death syndrome

Question 49

Initial treatment for carbon monoxide exposure

Answer 49

Inspired oxygen

Question 50

The glucose reserve may sustain cerebral activity for how many minutes once blood glucose is no longer available?

Answer 50

30 minutes

Question 51

Mainstay of treatment in hepatic encephalopathy

Answer 51

Oral lactulose

Question 52

T/F: in patients with fulminant hepatic failure, the degree of cerebral swelling is not proportional to the severity of encephalopathy.

Answer 52

False (directly proportional)

Question 53

Convulsions occur in what proportion of patients with uremic encephalopathy?

Answer 53

1/3

Question 54

Attributed to the rapid lowering of serum urea leaving the brain with a higher concentration of urea than serum and resulting in a shift of water into the brain to equalize the osmotic gradient.

Answer 54

Dialysis disequilibrium syndrome

Question 55

The MRI discloses a characteristic "batwing" lesion of the pons

Answer 55

Central pontine myelinolysis

Question 56

T/F: muscle cells rich in oxidative enzymes (type 1 fibers) contain more mitochondria and larger amounts of myoglobin with slower rates of contraction and relaxation.

Answer 56

True

Question 57

Results from the deficiency of thiamine characterized with nystagmus, abducens and conjugate gaze palsies, gait ataxia and mental confusion.

Answer 57

Wernicke disease

Question 58

T/F: The triad of the Wernicke-Korsakoff disease is present in only 16% of patients.

Answer 58

True

Question 59

The impaired olfactory discrimination seen in Korsakoff amnesic state is attributable to a lesion in what area?

Answer 59

Mediodorsal nucleus of the thalamus

Question 60

Given as a cofactor for thiamine activity

Answer 60

Magnesium

Question 61

Presents with the triad of dementia-dermatitis-diarrhea

Answer 61

Pellagra (Niacin deficiency)

Question 62

One milligram of nicotinic acid is formed from how many mg of tryptophan?

Answer 62

60

Question 63

Isoniazid causes marked excretion of this vitamin

Answer 63

Pyridoxine (Vitamin B6)

Question 64

Amino acid disorder characterized by an abnormally high excretion of nonhydroxylated indole metabolites and impaired intestinal transport of tryptophan.

Answer 64

Hartnup disease

Question 65

Most commonly used illicit drug

Answer 65

Cannabis

Question 66

More severe form of mercury poisoning

Answer 66

Organic mercury poisoning

Question 67

Anesthetic which may cause dissociative anesthesia

Answer 67

Ketamine

Question 68

Average blood alcohol concentration in fatal cases

Answer 68

Above 400 mg/dl

Question 69

Motor neuropathy associated with inorganic lead commonly involves what nerve?

Answer 69

Radial nerve

Question 70

Syndrome of periodic paralysis, cardiac arrhythmias, dysmorphic features

Answer 70

Andersen's syndrome

Question 71

Methotrexate toxicity is commonly encountered when administered by this route

Answer 71

Intrathecally

Question 72

Most frequent side effect of cyclosporine

Answer 72

Tremor

Question 73

Benign Intracranial Hypertension can result from what Vitamin excess

Answer 73

Vitamin A

Question 74

Most common cause of induced nystagmus

Answer 74

Drug intoxication

Question 75

Excessive doses of what vitamin produce a disabling predominantly sensory ganglionopathy

Answer 75

Pyridoxine

Question 76

T/F: In CPM, there is always a rim of intact myelin between the lesion and the surface of the pons

Answer 76

True

Question 77

The most common single manifestation of the abstinence syndrome

Answer 77

Tremulousness

Question 78

A family of closely related synaptic vesicle which is identified as the major calcium sensor that trigger fusion

Answer 78

Synaptotagmins