OVERVIEW: What every practitioner needs to know Are you sure your patient has molybdenum cofactor deficiency? What are the typical findings for this disease? Molybdenum cofactor deficiency is a rare autosomal recessive disorder most often presenting with severe neonatal seizures. It should be suspected in any infant with progressive neurologic decline in which asphyxia is…
OVERVIEW: What every practitioner needs to know Are you sure your patient has glutaric aciduria type I? What are the typical findings for this disease? Glutaric aciduria type I (GA-I) should be considered in any patient who has a history of dystonia/dyskinesia with macrocephaly. Prior to these overt chronic neurologic symptoms, there is usually a…
OVERVIEW: What every practitioner needs to know Are you sure your patient has tyrosinemia? What are the typical findings for this disease? Tyrosinemia encompasses several disease conditions that manifest with elevated levels of the amino acid tyrosine in the blood. Tyrosinemia type I (hepatorenal type) usually manifests as a progressive infantile/juvenile hepatic condition with variable…
OVERVIEW: What every practitioner needs to know Are you sure your patient has homocystinuria? What are the typical findings for this disease? Homocystinuria, due to deficiency of cystathionine beta-synthase (CBS), demonstrates variable manifestations observed in the ophthalmologic, skeletal, cardiovascular, and CNS systems. CBS deficiency causes elevations of methionine, homocysteine, and other metabolites including S-adenosyl homocysteine…
OVERVIEW: What every practitioner needs to know Are you sure your patient has Phenylketonuria? What are the typical findings for this disease? Phenylketonuria (PKU) is a treatable autosomal recessive condition which, without treatment, causes progressive mental retardation. It is due to the inherited deficiency of the enzyme phenylalanine hydroxylase (PAH). Because dietary restriction of phenylalanine…
