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Biochemistry

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Amino Acids, Proteins and Porphyrins

Question
29 out of 36
 

Which of the following is not true about Cystinosis? (AIIMS May 2008)



A Cystiene stones in urine common

B Corneal crystals

C Fanconi syndrome

D White blond hair and photophobia

Ans. A Cystiene stones in urine common

Cystinosis is an autosomal recessive genetic disorder of the renal tubules, characterized by the presence of carbohydrates and amino acids in the urine, excessive urination, and low blood levels of potassium and phosphates.

AMINOACID

CONDITION

ENZYME DEFECT

CLINICAL FINDINGS

INHERITANCE

Cystine

Cystinosis (Lysosomal

Membranes)

Cystinosin CTNS (lysosomal efflux)

Renal Fanconi syndrome,

Rickets,

Renal failure,

Photophobia,

Hypotonia,

Hypothyroidism,

Blindness.

AR

Cystine, lysine,

arginine, ornithine

Classic cystinuria

Proximal renal tubule, jejunal mucosa

Shared dibasic cystine

Transport protein SLC3A1, SLC7A9

Cystine nephrolithiasis

AR

Amino Acids, Proteins and Porphyrins Flashcard List

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