Term
| hurler's syndrome deficient enzyme |
|
Definition
|
|
Term
| hunter's syndrome deficient enzyme |
|
Definition
|
|
Term
| in Sanfilippo urine may have increased what |
|
Definition
|
|
Term
| features of morquio syndrome |
|
Definition
| skeletal involvement, corneal clouding, normal intelligence |
|
|
Term
| in which MPS disorders do you see corneal clouding |
|
Definition
|
|
Term
| 4 elevated lab findings in GSD type 1 |
|
Definition
| triglycerides, cholesterol, lactic acid, uric acid |
|
|
Term
| gsd type 1 due to a deficiency of |
|
Definition
| hepatic glucose-6-phosphatase |
|
|
Term
| familal hypercholesterolemia is due to deficiency of what |
|
Definition
|
|
Term
| features of Farber's disease |
|
Definition
| skin nodules and painful joints in first week of life, cherry red spot on retina (think Farmer's picking cherries) |
|
|
Term
| Hallmark feature of Wolman disease |
|
Definition
| calcified and enlarged adrenal glands |
|
|
Term
| low ceruloplasm levels can be seen in what 2 genetic diseases |
|
Definition
Menkes Kinky Hair syndrome
and
Wilson's disease |
|
|
Term
| in a child presenting with organomegaly, bone pain, easy bruisibility, and short stature you should think |
|
Definition
|
|
Term
| infantile Gaucher disease due to deficiency of what enzyme |
|
Definition
|
|
Term
| Tay Sachs disease due to a deficiency of what enzyme |
|
Definition
|
|
Term
| features of Tay Sachs Disease |
|
Definition
| normal development through first 9 months of life, exagerrated startle reflex, cherry red spot on retina, macrocephaly |
|
|
Term
| which disease have cherry red spots? |
|
Definition
Niemann-Pick disease
Tay Sachs
Infantile Gaucher |
|
|
Term
which diseases have cherry red spots and hepatosplenomegaly?
|
|
Definition
Niemann-Pick Disease
Infantile Gaucher
(Tay Sach's does not have organomegaly) |
|
|
Term
| Besides PKU, what can cause the presence of elevated serum phenylalanine levels on nbs? |
|
Definition
tetrahydrobipterin (BH4) deficiency (1-3% of cases)
or it can be transient (so repeat test before making diagnosis!) |
|
|
Term
| at what ammonia level do you need benzoate and phenylacetate therapy (medical therapy) |
|
Definition
|
|
Term
| at what ammonia level is dialysis indicated? |
|
Definition
|
|
Term
| what metabolic disorders present with metabolic acidosis and elevated ammonia |
|
Definition
propionic acidemia
methylmalonic acidemia
fatty acid oxidation defects |
|
|
Term
| what metabolic disorders typically present with metabolic acidosis and normal ammonia |
|
Definition
| msud, some organic acidemias |
|
|
Term
| what metabolic disorders typically present with elevated ammonia without metabolic acidosis |
|
Definition
urea cycle defect
transient hyperammonemia |
|
|
Term
| what metabolic disorders typically present with normal ammonia and no metabolic acidosis |
|
Definition
aminoacidopathy
galactosemia (unless patient is septic)
non-ketotic hyperglycinemia |
|
|
Term
| odor of sweaty feet goes with what metabolic disorder |
|
Definition
|
|
Term
| methylmalonic acidemia may respond to what med |
|
Definition
|
|
Term
| in a patient with hypoglycemia and no reducing substances or ketones in urine and normal serum amino acids- what metabolic disorder should you think of |
|
Definition
| fatty acid oxidation disorder |
|
|
Term
| what lab finding rules out a urea cylce defect (when hyperammonemia is present) |
|
Definition
|
|
Term
| galactosemia is from deficiency in what |
|
Definition
Galactose-1-phosphate uridyltransferase (GALT)
(measured in RBCs) |
|
|
Term
| when positive reducing substances is mentioned you should think |
|
Definition
|
|
Term
| what should you think when hypoglycemia can be remedied with an injection of glucagon |
|
Definition
|
|
Term
| in Beckwith-Wiedemann syndrome, the hypoglycemia is due to what |
|
Definition
|
|
Term
| what is the drug of choice in refractory hypoglycemia in infants |
|
Definition
|
|
Term
| the most important measurement to determine the etiology of hypoglycemia in infants is what (2) |
|
Definition
| urine ketones and urine reducing substances |
|
|
Term
| what is found in the urine in alkaptonuria |
|
Definition
|
|
Term
| how is alkaptonuria treated? |
|
Definition
| diet low in phenylalanine and tyrosine |
|
|
Term
| homocystinuria is due to deficiency of what |
|
Definition
| cystathionine synthase (results in elevated levels of methionine) |
|
|
Term
| how is homocysteinuria treated |
|
Definition
pyridoxine if responsive
if not, diet high in cystine and low in methionine |
|
|
Term
| in marfan's syndrome the lens displacement is anterior or posterior? |
|
Definition
| anterior lens displacement |
|
|
Term
| in homocysteinuria the lens displacement is anterior or posterior |
|
Definition
| posterior lens displacement |
|
|
Term
1. features of oculocutaneous tyrosinemia
2. how do you treat it? |
|
Definition
1. corneal ulcerations, plaques, and eventually clouding
skin thickening on palms and soles
2. low tyrosine and phenylalanine diet |
|
|
Term
| mousy odor is associated with |
|
Definition
|
|
Term
| A child with PKU who is overtreated will have what kinds of problems |
|
Definition
|
|
