Biochem Syndromes Flashcards
Defect in the transport of LCFAs into the mitochondria leading to toxic accumulation. Causes weakness, hypotonia, and hypoketotic hypoglycemis
Systemic Primary Carnitine Deficiency
An 8-week-old boy is brought to his pediatrician because his mother notes abnormal limb movements. Although both pregnancy and birth were not complicated, and there is an unremarkable family history and healthy siblings, this child has had developmental delay since birth. On examination the child has normal vital signs, coarse facial features, diffuse joint stiffness, claw hand deformities, clouded corneas, and kyphoscoliosis. Muscle biopsy reveals numerous intracytoplasmic inclusions in cells. What syndrome is this?
I cell disease due to a defect in protein trafficking (N-acetylglucosaminyl-1-phosphotransferase) Failure of the golgi to phosphorylate mannose residues so proteins are secreted in the ECM instead of lysosomes.
Duchenne Muscular Dystrophy and Tay Sachs disease are a result of what type of DNA mutation?
Frameshift
Protein deficiency that does not cause edema; diet is sufficient in calories but not nutrients
Marasmus
A patient has recently been diagnosed with Lynch Syndrome. They ask you what could have caused this. you answer would be?
A defect in the mismatch repair mechanism that fixes DNA
Protein malnutrition deficiency resulting in skin lesions, edema, fatty liver
Kwashiorkor
BRCA1 mutation is known for having a defect in what DNA repair mechanism?
Homologous Recombination
(Restoring two homologous DNA strands from damaged dsDNA)
Absent HGPRT leads to what syndrome? What are the symptoms?
Lesch-Nyan Syndrome (X linked Recessive)
(HGPRT converts hypoxanthine to IMP and guanine to GMP without it those pathways continue to make Xanthine Oxidase -> Uric Acid)
Symptoms: Intellectual disability, self-mutilation (biting the nails), hyperurecemia (orange sand in diaper), gout, dystonia
A patient comes into your office saying that he only goes out at night due to the negative effects the sun has on his skin. He states that his skin becomes very dry and blisters and that two years ago he was diagnosed with skin cancer even tho he is very careful with sun screen. What DNA repair mechanisms is defective in this patient?
Nucleotide Excisional Repair
Xeroderma Pigmentosum
(repairs bulky helix distorting lesions caused mostly by UV rays)
Neurological presentation of vitamin deficiency without megaloblastic anemia is what vitamin?
Vit E
A patient comes into you office complaining of difficulty walking for the past couple months. On physical exam you notice vascular skin lesions on her face and legs. What DNA repair mechanism has become defective in this patient?
Nonhomologous End Joing
Ataxia-Telangiectasia
(Repairs double stranded breaks in the DNA)
Hartnip Disease is caused by what?
AR deficiency in neutral amino acid transporters in the proximal renal tubular cells and on enterocytes this leads to neutral aminoaciduria and decrease absorption from the gut leading to decrease in tryptophan for conversion to niacin leading to pellagra like symptoms (4Ds- diarrhea, dementia, Dermatitis, Death)
What is one of the major autosomal recessive causes of Severe immune Deficiency Syndrome?
Adenosine Deaminase Deficiency
-purine salvage pathway
(required for the degradation of adenosine and deoxyadenosime; failure to make adequte DNA effects RAPIDLY DIVIDING CELL including the immune system)
Nutritional deficiency associated with high output cardiac failure and edema
Wet Beri Beri
Nutritional Deficiency associated with polynueropathy and symmetrical muscle wasting
Dry Beriberi
The decrease ability to break down fatty acyl carnitines in the blood with hypoketotic hypoglycemia. Causes vomiting, lethargy, seizures, come, liver dysfunction.
Medium Chain acyl coA dehydrogenase Deficiency
AR disorder of peroxisome biogenesis due to mutated PEX genes
Symptoms include hypotonia, seizures, heaptomegaly, early death
Zellweger Syndrome
AR disorder of alpa-oxidation leading to phytanic acid not metabolized to pristanic acid
Scaly skin, ataxia, cataracts, shortening of the 4th tow, epiphyseal dysplasia
Refsum Disease
X linked recessive disorder of beta-oxidation leading to VLCFA buildup in adrenal glands, white matter of the brain, test. Progressive disease,
Adrenoleukodystrophy
