Endocrine, nutritional and metabolic diseases
Metabolic disorders
Autosomal recessive
20q13.31
Cytosolic phosphoenolpyruvate carboxykinase deficiency causes a defect in gluconeogenesis that results in a 'biochemical signature' of fasting hypoglycemia with high tricarboxylic acid cycle intermediate excretion, particularly of fumarate. Other biochemical anomalies that may be seen during metabolic crisis include ketonuria, dicarboxylic aciduria, and urea cycle dysfunction. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 261680.1.1 | Oman | Female | Yes | Yes | Epileptic encephalopathy; Intellectual d... Epileptic encephalopathy; Intellectual disability; Autism; Hypoglycemia; Elevated circulating creatine kinase concentration; Elevated circulating hepatic transaminase concentration; Fever; Vomiting; Lethargy; Hepatomegaly; Hyperreflexia; Hypertonia  | NM_002591.4:c.961+1G>A | Homozygous | Autosomal, Recessive | Al Busaidi et al. 2023 | Proband from "family... |
| 261680.1.2 | Oman | Female | Yes | Yes | Hypoglycemia Hypoglycemia | NM_002591.4:c.961+1G>A | Homozygous | Autosomal, Recessive | Al Busaidi et al. 2023 | Sister of 261680.1.1 |
| 261680.1.3 | Oman | Male | Yes | Yes | Hypoglycemia; Elevated circulating hepat... Hypoglycemia; Elevated circulating hepatic transaminase concentration; Lactic acidosis; Status epilepticus; Vomiting; Encephalopathy | NM_002591.4:c.961+1G>A | Homozygous | Autosomal, Recessive | Al Busaidi et al. 2023 | Brother of 261680.1.... |
| 261680.2.1 | Oman | Female | Yes | Yes | Hypoglycemia; Lactic acidosis; Vomiting;... Hypoglycemia; Lactic acidosis; Vomiting; Ketonuria | NM_002591.4:c.574T>C | Homozygous | Autosomal, Recessive | Al Busaidi et al. 2023 | Proband from "family... |
| 261680.2.2 | Oman | Female | Yes | Yes | Lactic acidosis; Vomiting; Nonketotic hy... Lactic acidosis; Vomiting; Nonketotic hypoglycemia; Elevated circulating hepatic transaminase concentration; Lethargy; Hyperreflexia; Abnormal circulating amino acid concentration | NM_002591.4:c.574T>C | Homozygous | Autosomal, Recessive | Al Busaidi et al. 2023 | Sister of 261680.2.1 |
| 261680.3.1 | United Arab Emirates | Male | No | Hypoglycemia; Vomiting; Hepatomegaly; Me... Hypoglycemia; Vomiting; Hepatomegaly; Metabolic acidosis; Recurrent upper respiratory tract infections; Asthma; Hyperalaninemia; Elevated serum anion gap; Gastroesophageal reflux | NM_002591.4:c.1268C>T | Homozygous | Autosomal, Recessive | Al Busaidi et al. 2023 | Proband from "family... | |
| 261680.4 | Oman | Male | Yes | Encephalopathy; Seizure; Respiratory dis... Encephalopathy; Seizure; Respiratory distress; Lower limb hypertonia; Hyperreflexia; Hypoglycemia; Increased circulating lactate concentration; Hyperammonemia; Microcephaly; Global developmental delay | NM_002591.4:c.1268C>T | Homozygous | Autosomal, Recessive | Al Busaidi et al. 2023 | Proband from "family... |