BabyScreen+ newborn screening

Gene: PDHA1

Green List (high evidence)

To be reported in females.

Created: 2 Nov 2022, 8:02 a.m. | Last Modified: 2 Nov 2022, 8:02 a.m.

Panel Version: 0.734

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Pyruvate dehydrogenase E1-alpha deficiency, MIM# 312170

Green List (high evidence)

Pyruvate dehydrogenase deficiency is a metabolic disorder associated with abnormal function of the mitochondria in cells, thus depriving the body of energy. Progressive neurological symptoms usually start in infancy but may be evident at birth, or in later childhood; these symptoms may include developmental delay, intermittent ataxia, poor muscle tone (hypotonia), abnormal eye movements, or seizures. Severe lethargy, poor feeding, and tachypnea (rapid breathing) commonly occur, especially during times of illness, stress, or high carbohydrate intake. Childhood-onset forms of the condition are often associated with intermittent periods of illness but normal neurological development.

onset: neonatal period - childhood

severity: severe

non-molecular diagnosis: yes - fibroblast enzymology

treatment: ketogenic diet has a significant impact on outcome; some cases responsive to thiamine

Created: 1 Nov 2022, 6 a.m. | Last Modified: 1 Nov 2022, 6 a.m.

Panel Version: 0.719

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
lactic acidosis; porencephaly; ID; seizures; dystonia