Metabolic & Nutritional Flashcards
T/F: The neonate’s nervous system functions essentially at a brainstem-spinal level.
True
This is the first indication of disordered nervous system function.
Seizures
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.
False (do not become clinically manifest)
Mutation of the Pyridoxine-dependent seizures
ALDH7A1 gene
T/F: Patients with increased concentrations of serum phenylalanine in the neonatal period usually have a defect in biopterin metabolism.
True
Marked restriction of this dietary protein may prevent attacks of ketoacidosis.
Leucine
Characterized with sweaty foot syndrome
Isovaleric acidemia
Among the six diseases caused by inborn deficiencies of the enzymes of the Krebs-Henseleit urea cycle, which is X-linked dominant?
Ornithine transcarbamylase (OTC) deficiency
The hallmark of all the hereditary metabolic diseases
Psyvhosensorimotor regression
Deficiency of bothhexosaminidase A&B which affects infants of non-Jewish origins
Sandhoff disease
Rare autosomal disorder based on a mutation in ASAH1
Lipogranulomatosis
A distinctive disease with GFAP mutation giving rise to Rosenthal fiber inclusions.
Alexander disease
Characterized with acidosis with an anion gap and high serum lactate levels and hyperalaninemia
Congenital Lactic Acidosis
Disease which demonstrates a five-fold increase of very long chain fatty acids particularly hexacosanoic acid
Cerebrohepatorenal (zellweger) disease
The most common form of zellweger syndrome is due to what mutation?
Mutation in PEX1
The abnormal gene is located on chromosome Xq25.26 characterized with bilateral cataracts.
Oculocerebrorenal (Lowe) syndrome
A rare disorder which may show a combination of intracerebral hemorrhage and metaphysial bone spurs
Menkes disease
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.
True
T/F: indicative of gray matter disease (poliodystrophy) are the early onset seizures, myoclonus, blindness with retinal changes snd mental regression.
True
What proportion of patients with PKU are slightly microcephalic?
2/3
The Guthrie test will yield what cold in patients with PKU?
Emerald-green
The most severe form of this disease is caused by a mutation in the gene that codes for fumarylacetoacetate hydrolase
Hereditary tyrosinemia
The clinical features consist of an intermittent red, scaly rash over the face, neck, hands and legs resembling that of pellagra
Hartnup disease
The abnormality is the mutation of the gene for arylsulfatase A which prevents the conversion of sulfatide to cerebroside.
Metachromatic Leukodystrophy
The primary mutation in the infantile form is in the PLA2G6 gene
Neuroaxonal dystrophy
The first sign of juvenile GM1 gangliosidosis
Difficulty in walking
What is the fundamental defect of adrenoleukodystrophy?
Impairment in peroxisomal oxidation of very long chain fatty acids (VLCFAs)
Hexosaminidase is the deficient enzyme in which IEM disease?
Tay-Sachs
T/F: diseases with a dominant mode of inheritance tend to be less severe and less rapidly progressive.
True
Treatment in infantile opsoclonus-myoclonus syndrome
Dexamethasone
The salient clinical features of the later-onset types are severe myoclonus, seizures and visual loss.
Juvenile Ceroid Lipofuscinosis (cerebroretinal degeneration; batten disease)
This is a genetically distinct class of disease characterized by the storage in nervous tissue of sialylated glycopeptides caused by neuraminidase deficiency
Cherry-Red Spot-Myoclonus Syndrome
Vacuolated cells in the bone marrow seen in Infantile Niemann-Pick Disease
Foam cells
T/F: A notable feature of Wilson disease is the tendency for the motor disorders to be concentrated in the bulbar musculature.
True
How many percent of patients with wilson disease in the purely hepatic stage present with kayser-fleischer rings?
25%
Part of the basal ganglia most frequently involved in wilson disease
Putamen
Essentially, it is a hereditary choreoathetosis with self mutilation and hyperuricemia
Lesch-Nyhan Syndrome
This is an idiopathic form of calcification of the basal ganglia and cerebellum in which choreoathetosis and rigidity are prominent acquired features
Fahr Disease
Main differential diagnosis in adrenoleukodystrophy
Multiple sclerosis
Aminoaciduria is inherited as an autosomal recessive trait which simulates Marfan disease.
Homocystinuria
This disease is also known as anhiokeratoma corporis diffusum
Fabry disease
The primary deficit is in the enzyme alpha-galactosidase A
Fabry Disease
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.
True
T/F: The combination of progressive ptosis and symmetrical ophthalmoplegia is a common manifestation of mitochondrial disease.
True
Normal serum osmolality
270-290 mOsm/L
In total cerebral ischemia, the tissue is depleted of its sources of energy in about how many minutes?
5 minutes
The most common early imaging change in cases of severe anoxic encephalopathy
Loss of the distinction
Represents the most severe degree of hypoxia
Brain death syndrome
Initial treatment for carbon monoxide exposure
Inspired oxygen
The glucose reserve may sustain cerebral activity for how many minutes once blood glucose is no longer available?
30 minutes
Mainstay of treatment in hepatic encephalopathy
Oral lactulose
T/F: in patients with fulminant hepatic failure, the degree of cerebral swelling is not proportional to the severity of encephalopathy.
False (directly proportional)
Convulsions occur in what proportion of patients with uremic encephalopathy?
1/3
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.
Dialysis disequilibrium syndrome
The MRI discloses a characteristic “batwing” lesion of the pons
Central pontine myelinolysis
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.
True
Results from the deficiency of thiamine characterized with nystagmus, abducens and conjugate gaze palsies, gait ataxia and mental confusion.
Wernicke disease
T/F: The triad of the Wernicke-Korsakoff disease is present in only 16% of patients.
True
The impaired olfactory discrimination seen in Korsakoff amnesic state is attributable to a lesion in what area?
Mediodorsal nucleus of the thalamus
Given as a cofactor for thiamine activity
Magnesium
Presents with the triad of dementia-dermatitis-diarrhea
Pellagra (Niacin deficiency)
One milligram of nicotinic acid is formed from how many mg of tryptophan?
60
Isoniazid causes marked excretion of this vitamin
Pyridoxine (Vitamin B6)
Amino acid disorder characterized by an abnormally high excretion of nonhydroxylated indole metabolites and impaired intestinal transport of tryptophan.
Hartnup disease
Most commonly used illicit drug
Cannabis
More severe form of mercury poisoning
Organic mercury poisoning
Anesthetic which may cause dissociative anesthesia
Ketamine
Average blood alcohol concentration in fatal cases
Above 400 mg/dl
Motor neuropathy associated with inorganic lead commonly involves what nerve?
Radial nerve
Syndrome of periodic paralysis, cardiac arrhythmias, dysmorphic features
Andersen’s syndrome
Methotrexate toxicity is commonly encountered when administered by this route
Intrathecally
Most frequent side effect of cyclosporine
Tremor
Benign Intracranial Hypertension can result from what Vitamin excess
Vitamin A
Most common cause of induced nystagmus
Drug intoxication
Excessive doses of what vitamin produce a disabling predominantly sensory ganglionopathy
Pyridoxine
T/F: In CPM, there is always a rim of intact myelin between the lesion and the surface of the pons
True
The most common single manifestation of the abstinence syndrome
Tremulousness
A family of closely related synaptic vesicle which is identified as the major calcium sensor that trigger fusion
Synaptotagmins
