Table 1 The Demographic Data, Genotypes, and Main Clinical and Biochemical Features of the Affected Individuals
Family | Family 1 | Family 2 | Family 3 | Family 4 | |||
|---|---|---|---|---|---|---|---|
Patient | 1.1 | 1.2 (Proband) | 1.3 | 2.1 (Proband) | 2.2 | 3.1 (Proband) | 4.1 (Proband) |
Age | 11 years | 10 years | 4 years | 11 years | 3 years | 7 years | 4 years |
Age of onset | 2 years | 2.5 years | 3 years | 5 years | 4 months | 6 years | 23 h |
Gender | Female | Female | Male | Female | Female | Male | Male |
Region | Oman | Oman | United Arab Emirates | Oman | |||
PCK1 variant | c.961 + 1G > A; p.His322Glufs81* Homozygous | c.574T > C; p.Cys192Arg Homozygous | c.1268 C > T; p.Pro423Leu Homozygous | ||||
Main clinical features | Asymptomatic | Fever, vomiting, encephalopathy, with lethargy, seizures, hepatomegaly, hyperreflexia, and hypertonia | Vomiting, encephalopathy, lethargy, and seizures | Recurrent vomiting | Recurrent vomiting, lethargy, and hyperreflexia | Recurrent vomiting, recurrent URTI, intermittent asthma, and hepatomegaly | Encephalopathic with respiratory distress and seizures, lower limb hypertonia, and hyperreflexia |
Main biochemical features | Hypoglycemia was reported once during gastroenteritis illness | Hypoglycemia, elevated CK, AST, ALT, and TCA metabolites | Hypoglycemia, mildly elevated lactate, and AST | Hypoglycemia, ketonuria, and mildly elevated lactate | Hypoglycemia, mildly elevated ALT, AST, lactate, and branched-chain amino acids | Hypoglycemia Metabolic acidosis with high anion gap, and high alanine | Hypoglycemia, elevated ammonia, and lactate levels |
Outcome at last evaluation | Normal Development | Profound intellectual disability, autism, epileptic encephalopathy | Normal development | Normal development | Normal development | Normal development | Microcephaly, and developmental delay |