Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infants.

ABSTRACT:

Purpose

The purpose of this study was to enhance understanding of lysosomal acid lipase deficiency (LALD) in infancy.

Methods

Investigators reviewed medical records of infants with LALD and summarized data for the overall population and for patients with and without early growth failure (GF). Kaplan-Meier survival analyses were conducted for the overall population and for treated and untreated patients.

Results

Records for 35 patients, 26 with early GF, were analyzed. Prominent symptom manifestations included vomiting, diarrhea, and steatorrhea. Median age at death was 3.7 months; estimated probability of survival past age 12 months was 0.114 (95% confidence interval (CI): 0.009-0.220). Among patients with early GF, median age at death was 3.5 months; estimated probab

SUBMITTER: Jones SA 

PROVIDER: S-EPMC4857209 | biostudies-literature | 2016 May

REPOSITORIES: biostudies-literature