Michael Walsh

OVERVIEW: What every practitioner needs to know Are you sure your patient has Non-Ketotic Hyperglycinemia? What are the typical findings for this disease? There are certain signs and symptoms which should raise the question ‘does my patient have NKH?’. Patients are typically infants with the following: Hypotonia Myoclonic jerks/seizures Coma Classic EEG finding: Burst Suppression…

OVERVIEW: What every practitioner needs to know Are you sure your patient has a disorder of purine or pyrimidine metabolism? What are the typical findings for this disease? Key symptoms and signs of purine and pyrimidine disorders: Nephropathy/ renal failure Hematopoietic disease / immunodeficiency Developmental delay / seizures Disorders of Purine Metabolism Clinical manifestations of…