# Red Cell Pyruvate Kinase Deficiency With Hypertriglyceridemia: A Case Report

## TL;DR

A four-month-old baby with red cell pyruvate kinase deficiency and high triglycerides was successfully treated with early diagnosis and care.

## Contribution

Highlights a rare case linking pyruvate kinase deficiency with hypertriglyceridemia and successful management strategies.

## Key findings

- A four-month-old male with PK deficiency and severe hypertriglyceridemia showed improvement with specific treatment.
- Early diagnosis and treatment improved prognosis and quality of life in the affected infant.
- Lipemia retinitis and splenohepatomegaly were observed as clinical features in this case.

## Abstract

Red cell pyruvate kinase (PK) deficiency is a genetic disorder affecting the enzyme PK in red blood cells. A deficiency in PK leads to hemolytic anemia. Hypertriglyceridemia means elevated levels of triglycerides in the blood. The hypertriglyceridemia disorder can be primary or secondary to an underlying disease. Hypertriglyceridemia with β-thalassemia major is a known association and is called hypertriglyceridemia-thalassemia syndrome. A four-month-old male child was found to have milky serum. On investigation, there was severe anemia, with triglycerides at 1197 mg/dL and high lactate dehydrogenase (LDH). The child had severe pallor, mild icterus, a dysmorphic face, and splenohepatomegaly. Ophthalmic examination showed lipemia retinitis. The child was treated with medium-chain fatty acid formula feed. Regular blood transfusions, folic acid supplements, and avoidance of salicylate group drugs were advised. The child improved and is doing well. Thus, early diagnosis and treatment can change the prognosis and help maintain a near-normal life for affected infants.