A month old male child is brought to the clinic due to feeding difficulties. The parents give history of frequent seizures in the baby. Routine blood investigations revealed elevated levels of very long chain fatty acids (VLCFA) in the blood. The baby is suffering from which of the following condition?
Zellweger (cerebrohepatorenal) syndrome is the most severe form of a spectrum of conditions called Zellweger spectrum. The signs and symptoms of Zellweger syndrome typically appear during the newborn period and may include poor muscle tone (hypotonia), poor feeding, seizures, hearing loss, vision loss, distinctive facial features, and skeletal abnormalities. Affected children also develop life-threatening problems in other organs and tissues, such as the liver, heart, and kidneys. Children with Zellweger syndrome usually do not survive beyond the first year of life. The signs and symptoms of Zellweger syndrome typically become apparent within the first few hours or days of life. Affected newborns often have poor muscle tone (hypotonia); seizures; feeding difficulties; liver cysts with liver dysfunction.
Refsum disease is a rare neurologic disorder due to a metabolic defect that results in the accumulation of phytanic acid, which is found in dairy products and ruminant fat and meat. Phytanic acid is thought to have pathological effects on membrane function, protein prenylation, and gene expression.
Adult Refsum disease (ARD) is a rare genetic disease that causes weakness or numbness of the hands and feet (peripheral neuropathy).
Reference: : HARPERS ILLUSTRATED BIOCHEMISTRY30th ed Page no 231:
https://rarediseases.info.nih.gov/diseases/7917/zellweger-syndrome
Refsum disease
Zellweger syndrome
Cerebrohepatorenal syndrome
Both 2 & 3