The classic MSUD would present the earliest among neonates from first to second week of life. They may present with lethargy, vomiting, irritability, abnormal movements, poor feeding habits and poor weight gain which are eminently the offshoot of the neurological effects of leucine accumulation in the brain and…
In the United States, 36% of the population are clinically obese as of 2010. Obesity remains to be a looming major health crisis internationally where its prevalence rate is increasing rapidly especially in the first world countries worldwide.
Obesity is technically defined as having a BMI of more than 30. BMI is an index…
HMG-CoA lyase deficiency is a rare genetic disorder characterized by the deficiency of an enzyme that is necessary for the synthesis of ketone bodies and metabolism of leucine, an essential amino acid. Thus, patients present with severe and potentially life-threatening hypoglycemia, ketotic acidosis, hyperammonemia,…
Multiple carboxylase deficiency is a form of metabolic disorder involving failures of carboxylation enzymes.
The deficiency can be in biotinidase or holocarboxylase synthetase.
These conditions respond to biotin.
Holocarboxylase synthetase deficiency - neonatal;
Biotinidase deficiency - late onset;
Isovalericacidemia (IVA) is a rare metabolic disorder that is classified under the category of organic acidemias and is characterized by an inborn deficiency of the isovaleryl-CoA dehydrogenase (IVD) enzyme, which mediates leucine catabolism.
IVA is usually diagnosed in children and manifests with two types - acute and…
Viral hepatitis is an inflammatory liver condition that most commonly arises from hepatitis A virus (HAV), hepatitis B virus (HBV), hepatitis C virus (HCV), hepatitis D virus (HDV), and hepatitis E virus (HEV). The prevalence of these viruses varies geographically.
The clinical picture of acute viral hepatitis is variable…
Influenza is acommon infectious disease caused by the Influenza virus.
Onset is sudden with fever, rhinorrhea, sore throat and headache. Severe myalgias coupled with respiratory tract symptoms are typical of influenza. Patients may also have red, watery eyes and cough. There can also be tachycardia and dyspnea…
Huntington disease (Huntington's chorea) is an incurable, neurodegenerative, autosomal dominant inherited disorder caused by an elongated CAG repeat on the short arm of chromosome 4p16.3 in the Huntingtine gene. The signs and symptoms of the disease consist of motor, cognitive and psychiatric disturbances.
Hepatic encephalopathy (HE) is a pathological condition defined by the spectrum of neuropsychiatric abnormalities which result from a liver dysfunction. It is known in the scientific community with a number of different names, such as portosystemic encephalopathy, liver encephalopathy or hepatic coma.
Infectious mononucleosis is a common viral infection known to cause pharyngitis and fever. It is primarily an infection of teenagers and young adults caused by the Epstein Barr virus.
The majority of patients with infectious mononucleosis have mild symptoms. However a few will complain of the following features: Once…