Feeding difficulty and developmental delay for 8 months and nystagmus for 4 months in an infant / 中国当代儿科杂志
Chinese Journal of Contemporary Pediatrics
;
(12): 68-72, 2017.
Article
in Chinese
| WPRIM
| ID: wpr-351399
ABSTRACT
Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare autosomal recessive hereditary disease and is a congenital metabolic disorder of neurotransmitter biosynthesis. It is mainly manifested as hypotonia, oculogyric crisis, autonomic dysfunction, and developmental delay. This article reports a boy manifested as delayed motor development, hypotonia, and oculogyric crisis. Gene screening for metabolic disorders revealed new compound heterozygous mutations, c.1063dupA (p.I355fs) and c.250A>C (p.S84R), in the exon of DDC gene. The boy had a significant increase in 3-O-methyldopa as measured by dried blood spot. Therefore, he was diagnosed with AADC deficiency. After treatment with the dopamine receptor agonist pramipexole dihydrochloride, the catechol-O-methyltransferase inhibitor entacapone, and vitamin B6, the boy showed mild improvements in hypotonia, blepharoptosis, and oculogyric crisis. Clinical physicians should enhance their ability for identifying AADC deficiency, so as to facilitate early diagnosis and treatment of this disorder. Genetic counseling for birth health and prenatal diagnosis should be performed for parents in need.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Aromatic-L-Amino-Acid Decarboxylases
/
Feeding and Eating Disorders
/
Developmental Disabilities
/
Nystagmus, Pathologic
/
Amino Acid Metabolism, Inborn Errors
Type of study:
Prognostic study
/
Screening study
Limits:
Humans
/
Infant
/
Male
Language:
Chinese
Journal:
Chinese Journal of Contemporary Pediatrics
Year:
2017
Type:
Article
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