BIOCHEM Flashcards
1
Q
How is hnRNA processed before it leaves the nucleus?
A
5’ cap
Poly A tail
Splicing out of introns
mRNA leaves nucleus
2
Q
How does hexokinase differ from glucokinase?
A
Hexokinase: everywhere. It is not induced by insulin. It has a low Km and a low Vmax.
Glucokinase is only in the pancreas (beta cells) and liver. It IS induced by insulin. It has a high Km and a low Vmax.
3
Q
What is the result of a glycolytic enzyme deficiency?
A
RBC hemolysis
4
Q
What is the result of a deficiency in pyruvate dehydrogenase?
A
Neurological effects
5
Q
Rate limiting enzyme of hexose monophosphate pathway
A
Glucose 6 phosphate dehydrogenase
6
Q
Rate limiting enzyme of fatty acid synthesis
A
Acetyl CoA carboxylase
7
Q
Rate limiting enzyme of beta oxidation of fatty acids
A
carnitine acyltransferase
8
Q
Rate limiting enzyme of ketone body synthesis
A
HMG CoA synthase
9
Q
Rate limiting enzyme of cholesterol synthesis
A
HMG CoA reductase
10
Q
Where does fatty acid degradation take place?
A
Mitochondria
11
Q
Where does fatty acid synthesis take place?
A
Cytoplasm
12
Q
Where does glycolysis take place?
A
Cytoplasm
13
Q
Where does the TCA cycle take place?
A
Mitochondria
14
Q
Where is the ETC/oxidative phosphorylation?
A
Mitochondria
15
Q
Where does gluconeogenesis take place?
A
Mitochondria AND cytoplasm
16
Q
Enzyme deficient in Fructose intolerance
A
Aldolase B
17
Q
Enzyme deficient in Essential fructosuria
A
Frucokinase
18
Q
Enzyme deficient in Classic galactosemia
A
Galactose-1-phosphate uridyltransferase
19
Q
Tryptophan is the derivative of
A
Niacin (becomes NAD+/NADP+) –requires B6
Serotonin (becomes melatonin)–requires BH4
20
Q
Histidine is derivative of
A
Histamine. This conversion requires B6.
21
Q
Glycine is derivative of
A
Porphyrin (which gets broken down into heme.) This requires B6.
22
Q
Arginine is derivative of (3)
A
Creatine
Urea
Nitric oxide
23
Q
Glutamate is derivative of
A
GABA (requires B6)
Glutathione
24
Q
BH4 is required for which 3 conversions?
A
Phenylalanine –> Tyrosine
Tyrosine –> Dopa
Tryptophan –> Serotonin
25
Rate limiting enzyme in heme synthesis
Conversion of glycine and succinyl CoA to delta-Aminolevulinate acid
26
Carbamoyl phosphate synthetase I
Involved in urea cycle which takes place in mitochondria.
| Gets nitrogen from ammonium
27
Carbamoyl phosphate synthetase II
Involved in pyrimidine synthesis which takes place in the cytosol.
Gets nitrogen from glutamine.
28
Most common urea cycle disorder and its main characteristics
ORNITHINE TRANSCARBAMOYLASE DEFICIENCY.
X-linked recessive****
Interferes with body's ability to eliminate ammonia
Excess carbamoyl phosphate is converted to orotic acid (part of the pyrimidine synthesis pathway.)
Increased orotic acid in blood and urine
Decreased BUN (because urea cycle is not occurring)
Symptoms of hyperammonemia (hepatoencephalopathy).
29
Enzyme that converts phenylalanine to tyrosine
Phenylalanine hydroxylase
30
Enzyme that converts tyrosine to dopa
Tyrosine hydroxylase
31
Enzyme that converts dopa to dopamine
Dopa decarboxylase
| *this requires B6
32
Enzyme deficiency that leads to mental retardation, growth retardation, seizures, fair skin, eczema, and a musty body odor
Phenylalanine hydroxlyase or tetrahydrobiopterin cofactor.
This autosomal recessive d/o of AROMATIC amino acid metabolism leads to excess phenylketones in the urine (phenylacetate, phenyllactate, and phenylpyruvate)
33
Enzyme deficient in patient with dark connective tissue, debilitating arthralgias, brown pigmented sclera, and urine that turns black on prolonged exposure to air
This is alcaptonuria. It is the deficiency of homogentistic acid oxidase in the degradative pathway of tyrosine to fumarate, causing homogentisate to accumulate.
Its autosomal recessive.
34
3 possibily causes of homocystinuria
Cystathionine synthase deficiency
Decreased affinity of cystathionine synthase for pyridoxal phosphate
Homocysteine methyltransferase deficiency
35
2 diseases that can cause lens subluxation
Marfans
| Homocystinuria
36
Findings in homocystinuria
```
Increased homocystine in urine
MR
Osteoporosis
Tall stature
Kyphosis
Lens subluxation (downward, inward)
Atherosclerosis ( -- > stroke, MI)
```
37
Enyme that converts homocysteine to methionine and cofactor
Homocysteine methyltransferase
| B12
38
Enzyme that converts homocysteine to cystathionine and cofactor
Cystathionine synthase
| B6
39
Cystinuria defect
Renal tubular amino acid transporter for COLA --cysteine, ornithine, lysine, and arginine. It is found in the PCT of the kidneys. This is autosomal recessive and can lead to renal staghorn calculi!
40
Enzyme deficient in Maple Syrup Urine Disease
alpha-ketoacid dehydrogenase (B1)
Causes increased leucine, isoleucine, valine in the urine --particularly leucine.
Autosomal recessive.
41
Hartnup disease is characterized by what defect
Neutral amino acid transporter on renal and ntestinal epithelial cells. Thus, we can't use tryptophan to make niacin (B3), leading to PELLAGRA (dermatitis, dementia, diarrhea, death.)
42
Rate limtiing enzyme of glycolysis
Phosphofructokinase
43
Rate limiting enzyme of gluconeogenesis
Fructose 1,6 bisphosphatase
44
Rate limiting enzyme of TCA cycle
Isocitrate dehydrogenase
45
Rate limiting enzyme of glycogen synthesis
Glycogen synthase
46
Rate limiting enzyme of glycogenolysis
Glycogen phosphorylase
47
Rate limiting step of purine synthesis
Glutamine PRPP aminotransferase
48
Rate limiting step in pyrimidine synthesis
CPS II
49
Sources of carbon in formation of purines
CO2
Glycine
Tetrahydrofolate
50
Sources of carbon in formation of pyrimidines
CO2
| Aspartate
51
What accounts for + charge o histones
Lysine, arginine
52
what accounts for - charge of DNA
phosphate groups
53
Transition mutation
Mutation that substitutes a pyrimidine for a pyrimididine (or purine for purine)
54
Transversion mutation
Mutation that substitutes a purine for a pyrimidine or vice versa
55
Retardation, self-mutilation, aggression, hyperuricemia, gout, choreoathetosis -- > which enzyme is deficient?
This is Lesch-Nyhan syndrome, which is the result of defective purine salvage due to absence of HGPRT. This enzyme should convert hypoxanthine --> IMP and guanine ---> GMP. This causes excess uric acid production and de novo purine synthesis.
This d/o is X-linked recessive.
56
Adenosine deaminase deficiency pathogenesis
Excess ATP and dATP imbalances nucleotide pool via feedback inhibition of ribonucleotide reductase. This prevents DNA synthesis, thus decreasing lymphocyte count.
It is autosomal recessive.
57
Increased orotic acid in urine, megaloblastic anemia, failure to thrive, but NO hyperammonemia --- > which enzyme is deficient?
This is OROTIC ACIDURIA.
Either orotate phosphoribosyl transferase and/or OMP decarboxylase is deficient, resulting in the inability to convert orotic acid to UMP (de novo pyrimidine synthesis pathway).
Its autosomal recessive. Give these patients uridine.
58
Role of DNA polymerase alpha
Replicates lagging strand
| Synthesizes RNA primer
59
Role of DNA polymerase beta & delta
Repair DNA
60
Role of DNA polymerase gamma
Replicates mitochondrial DNA
61
Role of DNA polymerase delta
Replicates leading strand DNA
62
2 enzymes involved in hemoglobin synthesis that are inhibited by lead toxicity
Ferrochelatase
ALA dehydratase
Causes a microcytic hypochromic anemia with ringed sideroblasts (iron-laden macrophages in RBC precursors)
63
Alcoholic male presents with blistering lesions in sun-exposed areas, particularly the dorsum of the hands. He also has hypertrichosis and hyperpigmentation on the face.
- Dx?
- Enzyme deficient?
- Accumulated substrate?
Porphyria cutanea tarda (most common porphyria)
Uroporphyrinogen decarboxylase is deficient
Buildup of uroporphyrin causing tea-colored urine
64
Patient presents with a rash around the eyes, mouth, nose, and anus.
- Deficiency of?
- Associated sx with this deficiency
Zinc deficiency
This is known as acrodermatitis enteropathica.
Zinc deficiency can also cause anorexia, diarrhea, growth retardation, depressed mental function, impaired night vision, and infertility.
65
To what main 2 molecules is iron bound in human cells?
Myoglobin and ferritin
66
To what main 2 molecules is iron bound in blood?
Hb
| Transferrin
67
Cause of Burton's lines in lead poisoning
Lead interferes with normal remodeling of cartilage due to the interruption of calcium and Vit D homeostasis
68
Cancer associated with arsenic
Basal and squamous cell CAs
69
Peeling of the fingertips -- what do I have?
Either mercury poisoning or Kawasaki's disease
| It's known as acrodynia.
70
Organs affected by excess cadmium
Bone --osteoporosis/osteomalacia
Kidney injury
Lungs--increased risk of lung cancer
71
Organs primarily affected by excess mercury
Kidneys
| Brain
72
What are 3 different mechanisms that cells employ to break down proteins?
Ubiquitin protein ligase
Lysosomes
Calcium-dependent enzymes
73
Enzyme that catalyzes peptide bond formation during protein synthesis
Peptidyl transferase (ribozyme)
74
2 major functions of Von Willebrand factor
Complexes with and stabilizes factor VIII (thus, a deficiency would cause increased PTT).
Platelet adhesion to vessel wall and other platelets (thus a deficiency causes increased bleeding time)
75
How does biological form of Vit D exert its actions
Interacts directly with target cell DNA to selectively stimulate or repress gene expression
76
How does Vit D help maintain adequate levels of plasma calcium
Increases calcium uptake in intestine via increased expression of calcium binding protein
Stimulates PTH-dependent reabsorption of calcium in distal tubules
Stimulates bone resorption when necessary, along with PTH
77
4 steps in metabolism of vitamin D
Gut absorption (D2) or skin synthesis (D3)
Binding to plasma alpha1-globulin (D-binding protein) and transport to liver
Conversion to 25-hydroxycholecalciferol by 25-hydroxylase in LIVER
Conversion of 25-hydroxycholecalciferol to 1,25-dihydroxycholecalciferol by a1-hydroxylase in kidney
78
Precursor of Vitamin D3 in skin
7-dehydrocholesterol
79
Which form of Vitamin D is preferred in supplementation?
D3 (cholecalciferol)
80
How does Vit D deficiency cause clinical sx
Lack of vitamin d causes hypocalcemia--> increased PTH
Mobilization of calcium from bone, decreased renal calcium excretion, increased renal excretion of phosphate -->hypophosphatemia -->impairment of bone mineralization
81
Basic derangement in rickets/osteomalacia
Excess in unmineralized bone matrix
82
In what disease does Vitamin D toxicity result from excess macrophage generation of 25-hydroxy-vitamin D?
Sarcoiosis
83
Principle role of Vitamin K
Post-translational modification of various clotting factors where it serves as a coenzyme in carboxylation of certain glutamic acid residues present in these proteins
84
WHy are newborns particularly prone to Vitamin K deficiency and what prophylactic measures can be taken?
Newborns do not have microbes in gut to produce vitamin K and mother's milk only provides 1/5th of what they need. It is recommended newborns receive a single IM dose of vitamin K at birth.
85
3 Rx that cause Vitamin K deficiency with long-term use
Coumadin
Anticonvulsants
Abx (loss of gut bacteria)
86
What characterizes Vit K toxicity?
Hemolytic anemia and jaundice in an infant
87
Retinol esters are stored in liver until needed by body. How are they transported in teh body when needed?
Via plasma retinol-binding protein
88
In what broad metabolic functions is Vitamin A necessary?
Vision
Growth
Reproduction (spermatogenesis, prevent fetal resorption)
Maintenance of epithelial cells (especially mucous-secreting)
89
4 signs of Vitamin A deficiency
Night blindness
Xerophthalmia -- > corneal ulceration, blindness
Keratomalacia (wrinkling, clouding of corena)
Bitot's spots (dry, silver gray plaques on bulbar conjunctiva)
90
5 signs of hypervitaminosis A
```
H/A causing N/V, stupor
Skin -dry, pruritic
Liver-enlarged (possibly cirrhotic)
Bone and joint pain
Increased intracranial pressure --pseudotumor cerebri
```
91
3 congenital malformations associated with Vitamin A deficiency during preganncy
Cleft lip
Cleft palate
Neural crest cell derived structures
92
In which 2 patient populations is Vitamin A supplementation a bad idea?
Pregnancy
| Smokers (increased risk of lung cancer)
93
Main metabolic reaction Vitamin C is involved in
Hydroxylation of prolyl and lysyl residues of collagen
94
Another name for vitamin E
alpha tocopherol
95
Associated with Vitamin E deficiency
Spinocerebellar degeneration -- > ataxia
| Peripheral neuropathy, proximal muscle weakness
96
Mutations in what gene results in AR hereditary Vit E deficiency
Alpha-tocopherol transfer gene protein
97
Intracellular storage form of folic acid
N-methyl folate
98
How much folate should sexually active woman of childbearing age take to prevent neural tube efects
0.4 mg of folic acid a day
| 4 grams if at high-risk for neural tube defects
99
An excess of folate can cause what kind of deficiency?
B12 because this vitamin is used in making tetrahydrofolate
100
B12 deficiency can cause a deficiency in what?
Folate
101
In what 2 metabolic reactions is Vit B12 involved?
```
Homocysteine & methyl THF -- > methionine and THF (required for SAM to function)
Methylmalonyl CoA (coenzyme A) --> succinyl CoA
```
102
Where is B12 absorbed in GI tract?
Distal ileum
103
Metabolic function of pyridoxal phosphate
Coenzyme for numerous enzymes including those of AA metabolism (transaminations and deaminations)
104
Distinguish Vitamin B6 from Vitamin B2 (riboflavin) deficiencies.
Vitamin B6 deficiency has convulsions, hyperirritability, and peripheral neuropathy in addition to sx of Vitamin B2 deficiency (dermatitis, angular stomatitis and chelosis, glossitis)
105
Thiamine is AKA
B1
106
Pantothenic acid is AKA
B5
107
Folic acid is AKA
B9
108
Niacin is AKA
B3
109
Riboflavin is AKA
B2
110
Functionally active form of thiamine (B1)?
Thiamine pyrophosphate
111
Pt presents with wrist drop and hyporeflexia. They eat a lot of polished rice. What vitamin are they deficient in?
This is dry beri-beri. Deficient in thiamine
112
Characteristics of Wet Beri Beri
Peripheral vasodilation causing high output heart failure -- > peripheral edema, cardiomegaly
113
2 biologically active forms of B2 and role of these molecules
Riboflavin --> Flavin mononucleotide and flavin adenine denucleotide
Both are cofactors for redox reactions
114
Sx associated iwth riboflavin deficiency
Dermatitis
Cheilosis/angular stomatitis
Glossitis
115
5 nutrient deficiencies associated with cheilosis, glossitis, and stomatitis?
```
Iron
Riboflavin
Niacin
Folate
B12
```
116
Biologically active forms of niacin and role of these molecules
NAD+ and NADP+
| Both are cofactors for redox reactions
117
Why is pellagra seen in population that eats primarily corn?
Tryptophan can be metabolized to form niacin and corn is lacking in tryptophan.
118
How is niacin effective in treating type IIb hyperlipoproteinemia?
Inhibits lipolysis in adipose tissue -- > less circulating FFAs -- > less fatty acids to liver -- > less VLDL made -- > less LDL produced
119
Role of pantothenic acid in metabolism
B5 is a component of CoA which functions in transfer of acyl groups
120
Metabolic role of biotin
Apoenzyme in carboxylation reactions (hint: buy a tin of CO2!)
121
2 things that can cause biotin deficiency
```
Glycoprotein avidin found in egg whites prevents absoprtion of biotin
Abx use (gut bacteria make our biotin for us)
```
122
Vitamins used by pyruvate dehydrogenase and alpha-ketoglutarate dehydrogenase (there are 5)
```
B1 (thiamine)
B2 (riboflavin)
B3 (niacin)
B5 (pantothenic acid)
Lipoic acid
```
123
Characteristic sequence of promotor region and what a mutation in this sequence results in?
- 25 TATA box (Hogness box)
- 75 CAAT box
Mutation results in a decreased amount of transcribed gene.
124
What does a mutation in Homeobox HOXD-13 lead to?
Synpolydactyly (extra fused digit between 3rd and 4th fingers)
125
What are the homeobox (HOX) genes?
Blueprint for skeletal morphology
| Code for transcription regulators
126
What are nuclear localization signals?
AA sequences (4-8 AAs) rich in lysine, arginine, and proline
Essential component of proteins bound for or residing in the nucleus, such as histones
Nuclear pores recognize these signals and transport the proteins into the nucleus via ATPase
A mutation in a single AA may prevent nuclear transport
127
Molecules that provide the structural framework for DNA and nuclear envelope
Nuclear lamins
128
Which cyclin-CDK complexes assist in progression from G1 --> S?
Cyclin D + CDK4 (activation of CDK4 allows for phosphorylation of Rb protein, allowing Rb to be released from transcription factor E2F. Now the cell is free to transcribe/synthesize components needed for progression through S phase)
Cycline E + CDK2
129
Which tumor suppressor proteins prevent progression of cell into S phase
Rb
| p53
130
Which cyclin-CDK complexes assist in progression from G2 phase to M phase?
Cyclin A + CDK2
| Cyclin B + CDK1
131
I-cell disease deficiency and sx
Deficiency in mannose phosphorylation since there is no mannose-6-phosphate to target lysosomal proteins in the endoplasmic reticulum. Therefore, secretion is out of the cell vs. into lysosomes.
Most patients die by age 8.
They have corneal clouding, coarse facies, hepatosplenomegaly, skeletal abnormalities, restricted joint movement, and may or may not have mental retardation.
132
2 cell types rich in smooth ER
Hepatocytes
| Hormone-producing cells of adrenal cortex
133
Vimentin is a structural component of what kind of tissue?
```
Connective tissue (fibroblasts, leukocytes, endothelium)
It supports cellular membranes and keeps certain organelles fixed in cytoplasm.
```
134
Desmin is an intermediate filament found in what kind of cells?
Muscle cells (smooth, skeletal, heart)
135
Peripherin is an intermediate filament found in what kind of cells?
Neurons
136
What intermediate filament is mutated in Progeria?
Progeria is super fast aging (like that benjamin button movie).
Its the mutation of nuclear lamins, which form the structural component of the nuclear envelope and DNA within.
137
2 fundamental substances that make most things work inside cells
ATP
| Ca2+
138
Organelle responsible for breakdown of very long chain fatty acids and certain amino acids
Peroxisome
139
Arachidonic acid products that increase bronchial tone
Leukotrienes
| Thromboxane
140
Arachidonic acid products that decrease bronchial tone
Prostacyclin
| Prostaglandins
141
Arachidonic acid product that increases platelet aggregation
Thromboxane
142
Arachidonic acid product that increases uterine tone
Prostaglandin
143
Arachidonic acid product that decreases platelet aggregation
Prostacyclin
144
Arachidonic acid product that decreases uterine tone
Prostacyclin
145
Arachidonic acid product that increases vascular tone
Thromboxane
146
Arachidonic acid products that decrease vascular tone
Prostaglandin
| Prostacyclin
147
2 most abdunant substances in plasma membrane
Cholesterol
| Phospholipid
148
Protein involved in transporting an endocytosed vesicle from plasma membrane to endosome
Clathrin
149
What defect do you suspect in a patient that suffers an MI prior to the age of 20?
Familial hypercholesterolemia (hyperlipidemia type IIa). Elevated LDL due to defective or absent LDL receptors. Severe atherosclerotic dz early in life and tendon xanthomas. This is an AD disease.
150
4 classic findings in Osler Weber Rendu syndrome
This is an AD disorder of blood vessels. Its also known as Hereditary Hemorrhagic Telangiectasia. Generally these patients have telangiectasias, recurrent epistaxis, ski ndiscolorations, and arteriovenous malformations.
151
Hormonal levels and chromosomal location of gene associated with Huntington's disease
Decreased levels of both GABA and ACh
| Gene located on chromosome 4
152
ret gene
MEN 2A, 2B
153
5 classic findings in Neurofibromatosis Type I
This is an AD disorder characterized by cafe au lait spots, neural tumors, Lisch nodules (pigmented iris hamartomas), skeletal d/o (like scoliosis) and optic nerve pathway gliomas.
On long arm of chromosome 17.
154
2 classic findings in Neurofibromatosis Type 2
Bilateral acoustic schwannomas + juvenile cataracts
NF2 gene on chromosome 22
155
Inheritance pattern of Tuberous Sclerosis
Incomplete penetrance, autosomal dominant
156
Constitutive expression of which factors occur with deletions of VHL gene on chromosome 3?
This is Von Hippel Lindau disease. Deletions of the VHL gene (tumor suppressor) results in the constitutive expression of HIF (transcription factor) and activation of angiogenic growth factors.
157
Trinucleotide repeat of Fragile X
CGG
158
Trinucleotide repeat of Friedrich's ataxia
GAA
159
Trinucleotide repeat of Myotonic dystrophy
CTG
160
Mnemonic for x-linked diseases
Fabrys Tale: Duke the Muscular Hunter Brutally Lysed the Albino Gopher without being aWAre it was a Fragile Hemophiliac!
161
Most common lysosomal storage disease
Gaucher's disease
162
Only 2 x linked recessive lysosomal storage diseases
Fabrys
Hunters
Others are AR.
163
Which 3 lysosomal storage diseases are associated iwth an early death (usually by age 3)?
Tay Sachs
Nieman Pick
Krabbe's disease
164
Which lysosomal storage diseases are particularly common among Ashkenazi Jews?
Tay Sachs
Niemann Pick
Gaucher
165
Accumulation of ceramide trihexoside
Fabry's disease --XR
Peripheral neuropathy of hands/feet
Angiokeratomas
Cardiovascular/renal disease
Deficient in alpha galctosidase A
166
Macrophages that look like crumpled tissue paper
Gaucher's disease -- hepatosplenomegaly, aseptic necrosis of femur, bone crises, Gaucher's cells
Deficient in glucocerebrosidase -- > accumulaton of glucocerebroside
167
4 clinical mx of sphingomyelinase deficiency
Niemann Pick disease -- > progressive neurodegeneration, hepatosplenomegaly, cherry-red spot on macula, foam cells.
AR.
168
Lysosomes with onion-skin
Tay-Sachs, a deficiency in Hexosaminidase A causing accumulation of GM2 ganglioside
Progressive neurodegeneration, developmental delay, cherry red spot on macula, NO hepatosplenomegaly * vs Niemann Pick
169
Galactocerebrosidase deficiency
Krabbe's disease -- AR
Peripheral neuropathy, developmental delay, optic atrophy and globoid cells
170
Deficiency of arylsulfatase A
Metachromatic leukodystrophy causing accumulation of cerebroside sulfate.
Central and peripheral demyelination with ataxia, dementia.
171
Deficiency of alpha L-iduronidase
Hurlers syndrome -- developmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly, bulging frontal bones
Accumulation of heparan and dermatan sulfate.
AR -- nonsense mutation
172
Deficiency of iduronate sulfatase
Mild Hurlers + aggressive behavior, NO corneal clouding.
Accumulation heparan and dermatan sulfate.
XR.
173
Characteristic features of Prader Willi
Paternal allele is not expressed, maternal allele was inactivated.
Presents in infancy as hypotonia, poor feeding, almond hspaed eyes, downward turned mouth. Patient gets hyperphagia --> obesity, short stature, MR, behaviorr disorders (skin picking, OCD), and a hypogonadotrophic hypogonadism causing gential hypoplasia, osteoporosis, and delayed menarch.
174
Characteristic features of Angelman's syndrome
Maternal allele is not expressed, paternal allele was inactivated. Presents as mental retardation, seizures, ataxia, and inappropriate laughter.
175
What is the difference between Southern blot, Northern blot, and Western blot?
Southern blot: DNA sample, DNA probe
Northern blot: RNA sample, DNA probe
Western blot: protein sample, Ab probe
176
Pathogenesis and symptoms of Zellweger syndrome
Peroxisomal disease in which infants are unable to properly form myelin in CNS.
SX: hypotonia, seizures, hepatomegaly, MR, early death
177
Pathogenesis and treatment of Refsum disease
Defect in peroxisomal alpha oxidation leading to neurological disturabnces in response to accumulation of phytanic acid.
TX: strict avoidance of chlorophyll in diet
