Term
| Albinism results from a deficiency in the metabolism of which amino acid? |
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Definition
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Term
Which amino acid can be synthesized from glutamate (or precursors of glutamate) but not
always in sufficient quantities to support normal growth of a child? |
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Definition
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Term
A nonessential amino acid that becomes essential in patients with a defect in the synthesis
of tetrahydrobiopterin is? |
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Definition
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Term
A nonessential amino acid that becomes essential in patients with a defect in the synthesis
of tetrahydrobiopterin is? |
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Definition
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Term
How does treatment with phenylacetate putially overcome the clinical consequences of urea
cycle deficiencies? |
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Definition
| Phenylacetate forms excretable amino acid conjugates in the liver. |
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Term
Phenylketonuria usually results from a deficiency of phenylalanine hydroxylase or a defect in
the regeneration of |
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Definition
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Term
| which of the following diseases may cause maldigestion of fat? |
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Definition
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Term
| Adisease/deficiency that initially presents in elderly individuals is |
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Definition
| hyperglycemic hyperosmolar nonketotic coma. |
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Term
| Which disease results in lactic acidemia? |
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Definition
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Term
| Biotin deficiency results in |
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Definition
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Term
| When blood glucose is high, which pathway is increased in liver? |
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Definition
| Low Density lipoprotein synthesis |
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Term
| Type 1 diabetes is associated with |
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Definition
|
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Term
| Sickle cell hemoglobin (HbS) differs from normal adult hemoglobin (HbA) in that it |
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Definition
| tends to polymerize in the deoxy form. |
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Term
| How does insulin stimulate glycolysis? |
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Definition
| Increasing fructose 2,6 bisphosphate |
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Term
Anewborn was found to have vomiting, and hypotonia. Laboratory studies reveal increased levels of ammonia -with a normal anion gap. A family history reveals
similar manifestations in other members of the family. Further studies reveal that the
symptoms were due to an in-born error of amino acid metabolism. Metabolism of which of
the following is most likely to be impaired? |
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Definition
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Term
Which of the following manifestations may be seen in an infant born with tyrosinase enzyme
deficiency? |
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Definition
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Term
An infant born with inability to metabolize phenylalanine due to a phenylalanine hydroxylase
deficiency is at risk of developing which of the following complications? |
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Definition
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Term
JT is a25 year-old female patient at24 weeks gestation had her 50 gm oral glucose
challenge. Her t hour glucose comes back at 150 mg/dl. You would tell her which of the
following? |
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Definition
| She should be scheduled for a 100 gram oral glucose tolerance test, |
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Term
JT delivers a 4.5 kg male infant. At 12 hours of age he starts twitching. Which lab tests
would you consider ordering to give you the most information for his symptoms? |
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Definition
| Calcium, glucose, and magnesium |
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Term
A 28 year-old female type 1 diabetic patient seeks your advice regarding her ability to have a
normal baby" You would advise her that |
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Definition
she should try to achieve good glycemic control at least 3 months prior to
conception. |
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Term
| Infants of diabetic mothers are at increased risk for |
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Definition
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Term
A patient has fasting hypoglycemia,lacticacidemia, hypertriglyceridemia, hyperuricemia,
and excess hepatic glycogen accumulation.,What is the deficiency or disease? |
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Definition
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Term
| Black urine is due to a deficiency in? |
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Definition
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Term
| FIGLU (formiminoglutamate)is due to a deficiency in? |
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Definition
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Term
| Maple Syrup smell due to a deficiency in? |
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Definition
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Term
| Methylmalonyl CoA is a metabolite of ? |
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Definition
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Term
| Xanthurenate (yellow urine) is due to a deficiency of ? |
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Definition
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Term
| Polyamines are the secondary metabolites of? |
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Definition
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Term
| Melatonin is a secondary metabolite of? |
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Definition
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Term
| Pyridine nucleotides are secondary metabolites of? |
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Definition
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Term
| What disease is the most common aminoaciduria, autosomal recessive and is responsible for mousy, musty, animal like odor in sweat |
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Definition
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Term
| What is due to a deficiency of phenylalanine hydroxylase; phenylalanine shunted to phenylacetic & phenylpyruvic acid? |
|
Definition
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Term
| By 6 months sever mental retardation, seizures, pale skin, eczema, musty odor, decreased body growth, hyperactivity, vomiting is due to what disease? |
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Definition
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Term
| For the test for PKU ferric chloride is added to urine in presence of what type of metabolites resulting in green color? |
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Definition
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Term
| Rare cause of PKU is a fect in what synthesis with lack of complete response to dietary restriction? |
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Definition
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Term
| If the mother has phenylalanine greater than ? could cause mental and growth retardation, microcephaly and low birth weight, congential heart defects |
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Definition
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Term
What is a rare aut. rec. disease with lack of homogentisic oxidase causing accumulation of homogentisic acid (HA)
dark urine, HA results in arthritis and deposits in intervertebral discs and heart valves (Ochronosis) |
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Definition
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Term
Tyrosinase enzyme deficiny results in no ?
Causing HYPOpigmentation and blue/gray iris, X-linked poor vision this disease is? |
|
Definition
melanin
Oculocutaneous Albinism |
|
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Term
| What disease has normal infants but then a build up of homocysteine and methionine resulting in eye anomalies, seizures, charlie chaplin gait, predisposed to thrombosis |
|
Definition
| Hyperhomocysteinemia and Homocystinuria |
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Term
What type of hyperhomocysteinemia results in manifestation of extreme hyperhomocysteinemia ( greater than 100 micro mol/L)
Rare dysmorphic syndrome caused by homozygous cystathione-beta-synthase deficiency |
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Definition
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Term
What is deficieny in Tyrosinemia Type 1?
What is the organ most affected? |
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Definition
Fumarylaceto-acetate hydrolase
liver |
|
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Term
| What is an indicator of tyrosinemia Type 1 (hepatorenal tyrosinemia) |
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Definition
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Term
Classic presentation of Inborn Errors of metabolism in infancy is acuteo metabolic ? related to hyperammonemia
-urea cycle disorders
-organic acidemias |
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Definition
|
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Term
| The most common urea cycle disorder is due to a deficiency in what? |
|
Definition
| Ornithine transcarbamylase |
|
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Term
| What are the three most common organic acidemias? |
|
Definition
| Maple Syrup Urine disease (MSUD), methylmalonic acidemia, propronic acidemia |
|
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Term
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Definition
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Term
| In maple syrup urine disease what causes the buildup of LEUCINE Isoleucine and valine (branched chain amino acids) |
|
Definition
| Deficient mitochondrial branched chain alpha ketoacid DEYHYDROGENASE |
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Term
| Organic acidemias result in increase of what two things? Also hyperammonemia, prone to bac. infection, hypoglycemia, reye-like syndrome |
|
Definition
| anion gap, and ketone bodies |
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Term
| Organic Acidemias AKA Branched Chain Aminoacidemia is due to disorder of branched chain amino acids which are? |
|
Definition
| leucine, isoleucine, and valine |
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Term
The folowing is the clinical presentation of what?
Most profoundly affects brain and liver
severe enzyme deficiencies SOON AFTER BIRTH
lethargy, vomiting, seizures, coma
acidosis if organic acidemia; NONE if what type of disorder? |
|
Definition
Hyperammonemia
Urea Cycle disorder |
|
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Term
The folowing is the clinical presentation of what?
Most profoundly affects brain and liver
severe enzyme deficiencies SOON AFTER BIRTH
lethargy, vomiting, seizures, coma
acidosis if organic acidemia; NONE if what type of disorder? |
|
Definition
Hyperammonemia
Urea Cycle disorder |
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Term
| What are the 4 cardiovascular risk factors for CVD? |
|
Definition
| Adiposity, hypertension, dyslipidemia, and dysglycemia |
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Term
Low CRP is ?
High CRP is ? |
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Definition
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Term
HyperHyperLipoproteinemias
Type 1 Is due to an increase in |
|
Definition
| chylomicrons due to lipoprotein lipase deficiency |
|
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Term
| What hyper lipoproteinemias type invloves increase in LDL |
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Definition
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Term
| In regards to lipoproteinemias what type results in an APOE abnormality |
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Definition
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Term
| What lipoproteinemias results in increase in VLDL |
|
Definition
| Type 4 (familial form, due to obesity) |
|
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Term
| What hyper lipoproteinemias type involves increased chylomicrons and increased TAG? |
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Definition
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