Other treatments of PEPCK deficiency are based upon symptoms presented. [rarediseases.org]

PMID: 35868242 Cytosolic phosphoenolpyruvate carboxykinase deficiency presenting with acute liver failure following gastroenteritis. [pubmed.ncbi.nlm.nih.gov]

Decarboxylation activity is time regulated, usually presenting higher activity in the middle of the day. [researcher-app.com]

The percentage of ‘present’ calls ranged between 64% and 71.8% among the 16k probe sets of the array. [tandfonline.com]

• Failure to Thrive

  Severe cases may exhibit loss of muscle tone (hypotonia); abnormal enlargement of the liver (hepatomegaly) inability to gain appropriate weight and grow normally (failure to thrive), small head size and developmental delay. [rarediseases.org]

  […] to thrive - microcephaly due to ASXL3 deficiency Severe generalized RDEB Severe generalized recessive dystrophic epidermolysis bullosa Severe hemophilia A Severe hemophilia B Severe infantile axonal neuropathy with respiratory failure Severe intellectual [csbg.cnb.csic.es]

• Heart Disease

  Coloboma - congenital heart disease - ichthyosiform dermatosis - intellectual deficit - ear anomalies syndrome Coloboma - heart defects - atresia choanae - retardation of growth and development - genitourinary problems - ear abnormalities Coloboma of [csbg.cnb.csic.es]

• Osteoporosis

  […] appearance syndrome Acromegaly Acromesomelic dwarfism Acromesomelic dysplasia, Grebe type Acromesomelic dysplasia, Hunter-Thomson type Acromesomelic dysplasia, Maroteaux type Acrometageria Acromicric dysplasia Acroosteolysis dominant type Acroosteolysis with osteoporosis [csbg.cnb.csic.es]

• Phenylketonuria

  Classic PKU classic PMD Classic Rokitansky syndrome Classical homocystinuria Classical phenylketonuria Classical PKU Classical progressive supranuclear palsy Classical PSP Clear cell adenocarcinoma Clear cell renal carcinoma Clear cell renal cell adenocarcinoma [csbg.cnb.csic.es]

• Confusion

  Hypoglycemia can present with drowsiness, confusion or loss of consciousness. [rarediseases.org]

Diagnostic workup revealed hypoglycemia as well as a cerebral edema and ruled out an infection. After a complicated course with difficult to treat symptomatic seizures, the child died on the 5th day of admission due to progressive cerebral edema. [pubmed.ncbi.nlm.nih.gov]

Other treatments of PEPCK deficiency are based upon symptoms presented. [rarediseases.org]

The expression of the ubiquitin gene assessed with array data was equal and stable across all treatments. [tandfonline.com]