Biochemical Disorders Flashcards
What biochemical disorder is caused by phenylalanine hydroxylase deficiency: inability to process Phe into Tyr, Phe build up us toxic?
PKU
What are characteristics of biochemical disorders?
- almost all are autosomal recessive
- if the protein is involved in the enzyme, typically these orders are inherited in an autosomal recessive manner
- if the protein mutated is a structural protein, they are often inherited in an autosomal dominant manner
What biochemical disorder has the following recurrent risks:
- turkey 1/2600
- Ireland 1/4,500
- Japan 1/43,000
- Caucasian -/10,000
PKU
What biochemical disorder has the following phenotype:
- severe mental retardation starting around age 3-4 months, epilepsy, microcphaly, musty odor, eczema, hypopigmentation
PKU
Elevation of diagnostic amino acids on amino acid quantification and treated with dietary management is characteristic of what biochemical disorder?
PKU
What biochemical disorder is an aminoacidopathy, autosomal recessive and a tetrahydrobiopterian cofactors?
PKU
What biochemical disorder has a methymalon1-CoA mutase deficiency: inability to convert methylmalonyl-CoA into succinyl-CoA
Methylmalonic Aciduria
What biochemical disorder has a recurrence risk of 1/40,000-1/60,000?
Methylmalonic Aciduria
What biochemical disorder causes first week of life acidosis due to buildup of Methylmalonic acid, repeated acidosis episodes may lead to neurologic damage?
Methylmalonic Aciduria
What biochemical disorder has elevation of diagnostic organic acid in urine, treated by diet low in protein and liver transplant?
Methylmalonic Aciduria
What biochemical disorder is an organic acid disorder, autosomal recessive, B12 cofactor?
Methylmalonic Aciduria
What biochemical disorder is Ornithine transcarbamylase deficient: inability to convert carbamyl phosphate into Ornithine?
Ornithine transcarbamylase deficiency (OTC)
What biochemical disorder has the following phenotype:
- hyperammonia in the neonate, severe neurological damage
Ornithine transcarbamylase deficiency (OTC)
What biochemical disorder has elevation of ammonia and diagnostic amino acid, treated by low protein diet, ammonia scavenger meds, and liver transplant
Ornithine transcarbamylase deficiency (OTC)
What biochemical disorder represents a urea cycle defect?
Ornithine transcarbamylase deficiency (OTC)
What biochemical disorder is fructoaldolase deficient: inability to metabolize fructose to glucose?
Hereditary fructose intolerance (HFI)
What biochemical disorder has the following phenotype:
- acute ingestion: vomiting and hypoglycemia
- chronic ingestion: hepatomegaly and renal dysfunction
Hereditary fructose intolerance (HFI)
In what biochemical disorder is the treatment avoidance of corn, fruit, sweet potatoes, corn syrup, all desserts with sugar, all bread, some lunch meats, table sugar
Hereditary fructose intolerance (HFI)
What biochemical disorder is a carbohydrate defect?
Hereditary fructose intolerance (HFI)
What biochemical disorder has a defect in hypoxanthine-guanine phosphoribosyltransferase activity (HGPRT)
Lesch-Nyhan Syndrome
What biochemical disorder has the following phenotype:
- neurologic dysfunction and self-mutilation
Lesch-Nyhan Syndrome
What biochemical disorder is diagnosed based on symptoms and treated w/ low purine diet, allopurinol, and meds for treatment of neurologic signs and symptoms
Lesch-Nyhan Syndrome
What biochemical disorder is a purines/pyrimidine disorder, more common in boys b/c X-linked recessive
Lesch-Nyhan Syndrome
What biochemical disorder has a medium acyl-Coa dehydrogenase deficiency: medium chain fatty acids cannot be broken down into ketones?
Medium acyl-CoA dehydrogenase (MCAD)
What biochemical disorder has he following phenotype:
- lethargy and vomiting following fasting, hypoketonic, hypoglycemia
Medium acyl-CoA dehydrogenase (MCAD)
What biochemical disorder has the diagnostic of intermediates on urine organic acid quantitation (part of new born screening test) treated by avoidance of fasting and rapid treatment of hypoglycemia?
Medium acyl-CoA dehydrogenase (MCAD)
What biochemical disorder is the most common fatty acid oxidation disorder, autosomal recessive?
Medium acyl-CoA dehydrogenase (MCAD)
What biochemical disorder has a biotinidase deficiency: unable to reclaim biotin from the diet causing biotin insufficiency?
Biotinidase
What biochemical disorder has the following phenotype:
- alopecia, dermatitis, deafness, seizures, neurologic deterioration at ~4-6 months old
Biotinidase
What biochemical disorder is treated with biotin supplementation?
Biotinidase
What biochemical disorder represents a vitamin defect?
Biotinidase
What biochemical disorder is caused by a mutation of ATP7A gene located on chromosome Xq12-q13: leads to inability to absorb copper across the intestinal epithelium?
Menke Disease
What biochemical disorder has a recurrence risk of 1/254,000
Menke Disease
What biochemical disorder has the following phenotype:
- severe neurodegenerative disorder, kinky hair
Menke Disease
What biochemical disorder is diagnosed by low ceruloplasmin and copper and has copper histidinate infusion treatment under investigation, most children die in the 1st year of life
Menke Disease
What biochemical disorder is an example of a mineral defect, mostly seen in boys b/c X-linked recessive
Menke Disease
What biochemical disorder has a mutation of beta-hexoaminidase: causes defective activity of hexosaminidase A which degrades GM-gangliosides?
Tay-Sachs
What biochemical disorder has the following phenotype:
- hypotonia, spasticity, seizures, blindness
Tay-Sachs
What biochemical disorder is fatal with no treatment?
Tay-Sachs
What biochemical disorder is an example of a lysosomal storage disorder. Higher incidence in communities with breeding restrictions
Tay-Sachs
