Genetic Disorders and Biochemical Pathology — Flashcards

Segawa syndrome is due to the defective _____ enzyme required for BH4 synthesis

Kyphoscoliosis is seen in EDS type _____ due to deficiency of enzyme lysyl hydroxylase-1

What is the inheritence pattern of Brunner's syndrome?_____

The mutations contributing to Menieres disease are found in the short arm of chromosome _____.

_____ paradox states that risk of expressing mental retardation in fragile X syndrome increases in later generations

_____ levels of coproporphyrin in urine is seen in Rotor syndrome

There is impaired synthesis, processing, or ligand binding of _____ in patients of Imerslund-Grasbeck syndrome

Which gene is mutated in congenital cataract?_____

The ratio of BH4 loading test 2nd or 3rd-hour post-load value with urine _____ level has high sensitivity and specificity, for diagnosing Segawa syndrome

A _____ syndrome is a rare inherited absence of peroxisomes (not a mitochondrial disorder).