Which of the following is not true about Cystinosis?
Ans. A. Cysteine stones in urine commonCystinosis 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.Amino acidConditionEnzyme DefectClinical FindingsInheritanceCystineCystinosis (Lysosomal Membranes)Cystinosis CTNS (lysosomal efflux)Renal Fanconi syndrome, Rickets,Renal failure, Photophobia,Hypotonia,Hypothyroidism,Blindness.ARCystine, lysine, arginine, ornithineClassic cystinuriaProximal renal tubule, jejunal mucosa Shared dibasic cystine Transport protein SLC3A1, SLC7A9Cystine nephrolithiasisAR
Cysteine stones in urine common
Corneal crystals
Fanconi syndrome
White blond hair and photophobia
Proteins and Amino Acids