Refsums Disease Jamaican Vomiting Sickness Sids Case Study

Refsum’s Disease, Jamaican Vomiting Sickness, SIDS

Refsums Disease

1. The peroxisomal disorder is caused by impaired alpha oxidation of fatty acids.
2. It is caused by a deficiency of Phytanic acid oxidase.
3. Phytanic acid accumulates in tissues and leads to neurological manifestations.

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Refsums Disease Symptoms

1. Retinitis pigmentosa-progressive loss of vision.
2. Deafness.
3. Ataxia (Failure of muscle coordination).
4. Dry and scaly skin.
5. Shortened fingers and toes.
6. Laboratory diagnosis- detection of phytanic acid in the blood.

Refsums Disease Treatment

1. A diet low in phytanic acid (Phytanic acid is present in dairy products and meat).
2. Symptomatic and supportive care.

Jamaican Vomiting Sickness

1. It is characterized by vomiting due to eating unripe ackee fruit.
2. This fruit contains the toxin– hypogycin A.
3. Hypogycin is metabolized into compounds that inhibit beta-oxidation of fatty acids.
4. Sudden onset of vomiting and epigastric pain after ingestion of unripe ackee fruit.

Sudden Infant Death Syndrome (SIDS)

1. The sudden, unexpected death of a healthy child occurs at night.
2. 10% of cases of SIDS are thought to be due to a deficiency of medium-chain acyl CoA dehydrogenase.