Homocystinuria is an autosomal recessive metabolic disease characterized by elevated levels of homocysteine. The most common genetic mutation involved in the disease targets cystathionine beta-synthase, an enzyme that catalyzes the conversion of methionine into cysteine.
Patients with homocystinuria can present…
Leber'shereditaryopticatrophy is an inherited neuropathy associated with bilateral central and centrocecal vision loss. … Leber'shereditaryopticatrophy, often also referred to as Leber's hereditary optic neuropathy (LHON), is a rare disorder characterized by subacute vision loss. … Leber'shereditaryopticatrophy, often also referred to as Leber's hereditary optic neuropathy (LHON), is an inherited neuropathy that usually manifests around the third … 
Most of the infants with Infantile Neuronal Ceroid Lipofuscinosis appear to develop normally up to 6 months of age after birth. After 6 months, slowly they start developing indifference to the surroundings. Their reflexes to stimuli show an unusual delay or are often completely absent. There is mental retardation…
Methanol poisoning results from accidental or voluntary ingestion of methyl alcohol, a compound used in the chemical industry and as fuel. Methanol is in no case suitable for consumption.
Methanol causes inebriation similar to ethanol and patients may merely appear drunk, lose their inhibitions and become ataxic. At…
Brandt syndrome (BS) is also called acrodermatitis enteropathica (AE). It is a congenital disease that causes zinc deficiency due to malabsorption. Inherited in an autosomal recessive pattern, BS characteristically presents with dermatitis, diarrhea and hair loss.
Brandt syndrome (BS) is an autosomal recessive inborn…