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[Lysinuric protein intolerance].

A W Behbehani, M Gahr, W Schröter

Monatsschrift Kinderheilkunde : Organ Der Deutschen Gesellschaft Fur Kinderheilkunde

|November 1, 1983

Summary

This case study details the first German observation of lysinuric protein intolerance (LPI) in a child. Early diagnosis and treatment with citrulline and a low-protein diet stabilized the patient

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Area of Science:

Biochemistry
Genetics
Pediatrics

Background:

Lysinuric protein intolerance (LPI) is a rare autosomal recessive metabolic disorder.
It is characterized by impaired transport of cationic amino acids (lysine, arginine, ornithine).
This leads to hyperammonemia and metabolic acidosis, particularly after protein intake.

Observation:

A 6-month-old girl of Turkish descent presented with severe dehydration after switching to cow's milk.
Initial suspicion of a hematologic disorder (Farquar's disease) due to microcytic anemia and bone marrow erythrophagocytosis.
Clinical presentation included apathy, vomiting, diarrhea, and hyperammonemia post-protein load.

Findings:

Definitive diagnosis of LPI confirmed by low plasma and high urinary levels of lysine, arginine, and ornithine.
Elevated serum lactate dehydrogenase (LDH) activity, ferritinemia, and increased urinary orotic acid excretion were noted.
Unique bone marrow findings, previously reported in only one other LPI case.

Implications:

Highlights the importance of considering LPI in infants presenting with unexplained metabolic derangements and hematologic abnormalities.
Demonstrates the efficacy of citrulline supplementation and a low-protein diet in managing LPI.
Underscores the diagnostic value of amino acid analysis and specific metabolic markers in LPI cases.

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