Purines And Pyramidines

Question 1

Overproduction of uric acid

Red/orange crystals in urine

Gouty arthritis, urate nephropathy
Aggression, self-injurious behavior
Hyperuricemia , dystonia

Answer 1

Lesch-Nyhan Syndrome

X-linked recessive on chromosome Xq26

hypoxanthine-guanine phosphoribosyltransferase (HGPRT)

Question 2

Normal at birth ,Severe, recurrent infections: bacterial diarrhea, chronic candidiasis (thrush), viral and protozoal infections ,Failure to thrive ,Chronic diarrhea
•Lymph nodes and tonsils may be absent

Answer 2

Adenosine deaminase
deficiency

Deficiency in adenosine deaminase

autosomal recessive SCID

defective development of functional B cells and T cells

Question 3

children susceptible to severe, recurrent, and potentially fatal viral infections with isolated impaired T-cell

Answer 3

Purine Nucleoside Phosphorylase Deficiency

enzyme purine nucleoside phosphorylase

Mutation is in PNP gene,

on 14q11.2

AR inheritance.

Question 4

congenital dilated cardiomyopathy, including endocardial fibroelastosis
•Generalized myopathy with growth retardation and neutropenia.
•Deficient in cardiolipin, and skeletal muscle shows increased lipid levels

Answer 4

Barth Syndrome

Question 5

severe abdominal pain, nausea, vomiting, constipation.
polyneuropathies (nonspecific pain, weakness/fatigue, paresthesia, paresis)
Red-purple urine
hallucinations, disorientation, anxiety, insomnia
tachycardia, hypertension

Answer 5

Acute Intermittent Porphyria

Trigger → ↑ heme demand and biosynthesis → impaired enzyme activity due to a mutation of porphobilinogen deaminase (PBG-D)
→ accumulation of heme intermediates porphobilinogen (PBG) and δ-aminolevulinic acid (ALA) →

Triggers
Anticonvulsants (barbiturates, phenytoin)
Sulfonamides
Alcohol
Smoking

Question 6

photosensitivity with blistering of the skin leading to extensive scarring
hemolytic anemia .
red-brown discoloration of the teeth.

Answer 6

Congenital Erythropoietic Porphyria

Deficiency of the enzyme uroporphyrinogen III synthase.