SHORT TERM OUTCOME OF LCHAD DEFICIENCY IDENTIFIED BY NEWBORN SCREENING.
Alvaro Serrano Russi MD1
1Stead Department of Pediatrics; Division of Medical Genetics; University of Iowa, Iowa City, IA, USA E-mail: Alvaro-serranorussi@uiowa.edu
Phone: 319-356-2674
Patient was born at 38 weeks gestation with a birth weight of 2175 grams. APGAR scores of 8 and 9. She was small for gestational age and was found to have persistently decreased body temperatures associated with blood glucose values of 34 mg/dL to 64 mg/dL but dropping to 50 mg/dL with minimal fasting interval. Newborn screening collected at 24 hours showed elevations in C14-OH, C16-OH, C16:1-OH and C18-OH.
Liver function testing and abdominal right upper quadrant ultrasound were normal. Echocardiogram showed normal function. She was managed locally with frequent feeding and was started on a mixture of breast milk and formula containing 55% MCT oil. Confirmatory testing in the first week of life showed elevations of C16 and C18
3-hydroxyacylcarnitine with an initial free carnitine of 20 nmol/mL. Urine organic acids showed hypoketotic C6-C10 dicarboxylic aciduria and a 3-hydroxydicaboxylic aciduria. Molecular genetic testing showed the homozygous c.1528G>C mutation in HADHA. No mutation was found in HADHB.
At 5 months with acute illness and decreased oral intake, she had significantly elevated transaminases and CPK (AST: 514 U/L; ALT: 213 U/L; CPK: 8503 U/L) decreasing over five days of illness while following emergency protocol.
Baseline ocular exam at 6 months did not show evidence of retinopathy. Most recent clinic visit at 8 months showed she had recovered and was developmentally normal. Solid food was added on at 5-6 months of age monitoring levels of hydroxylated acyl carnitines and essential fatty acids.
| Age | 3 days | 36 days | 62 days | 15 weeks | 5 months | 9 months | Reference |
| C12-OH | 0.17 | 0.04 | 0.02 | 0.03 | 0.04 | 0.02 | <0.09 |
| nmol/mL | |||||||
| C14:1OH | 0.21 | 0.05 | 0.03 | 0.06 | 0.06 | 0.02 | <0.18 |
| nmol/mL | |||||||
| C14-OH | 0.31 | 0.07 (H) | 0.03 | 0.06 (H) | 0.05 (H) | 0.03 | <0.05 |
| nmol/mL | |||||||
| C16:1-OH | 0.31 | 0.07 | 0.04 | 0.06 | 0.06 | 0.04 | <0.36 |
| nmol/mL | |||||||
| C16-OH | 0.77 | 0.21 (H) | 0.09 (H) | 0.16 (H) | 0.13 (H) | 0.11 (H) | <0.07 |
| nmol/mL | |||||||
| C18:2-OH | 0.31 | 0.12 (H) | 0.08 (H) | 0.14 (H) | 0.18 (H) | 0.08 (H) | <0.06 |
| nmol/mL | |||||||
| C18:1-OH | 1.40 | 0.37 (H) | 0.17 (H) | 0.34 (H) | 0.36 (H) | 0.19 (H) | <0.04 |
| Total | 3.48 | 0.93 | 0.46 | 0.85 0. | 88 | nmol/mL
0.49 |
|
Follow up of hydroxylated long chain acyl carnitines over time