Inborn Errors of Metabolism — Flashcards

Propionic acidemia presents with poor feeding, _____, hypotonia, anion gap metabolic acidosis, hepatomegaly and seizures

Pearson syndrome is a mitochondrial inheritence disorder characterised by _____ insufficiency, pancytopenia and lactic acidosis

_____ disease is also known as infantile cortical hyperostosis.

A patient with Alagille syndrome may have renal dysplasia, glomerular _____ or renal tubular acidosis

What is the most common cause of genetic mental retardation?

Characteristic clinical findings in Phenylketonuria: No answer _____

Type II tyrosinemia will present with features such as _____ and palmoplantar keratoderma/plaques

Van der Hoeve syndrome consist of the triad of _____, Otosclerosis and Blue sclera

The abnormality of _____ syndrome is arterio-hepatic dysplasia

The majority of cases of _____ syndrome are caused by de novo mutations in meCP2