From HPO
Argininosuccinate lyase deficiency- MedGen UID:
- 78687
- •Concept ID:
- C0268547
- •
- Disease or Syndrome
Deficiency of argininosuccinate lyase (ASL), the enzyme that cleaves argininosuccinic acid to produce arginine and fumarate in the fourth step of the urea cycle, may present as a severe neonatal-onset form or a late-onset form: The severe neonatal-onset form is characterized by hyperammonemia within the first few days after birth that can manifest as increasing lethargy, somnolence, refusal to feed, vomiting, tachypnea, and respiratory alkalosis. Absence of treatment leads to worsening lethargy, seizures, coma, and even death. In contrast, the manifestations of late-onset form range from episodic hyperammonemia triggered by acute infection or stress to cognitive impairment, behavioral abnormalities, and/or learning disabilities in the absence of any documented episodes of hyperammonemia. Manifestations of ASL deficiency that appear to be unrelated to the severity or duration of hyperammonemic episodes: Neurocognitive deficiencies (attention-deficit/hyperactivity disorder, developmental delay, seizures, and learning disability). Liver disease (hepatitis, cirrhosis). Trichorrhexis nodosa (coarse brittle hair that breaks easily). Systemic hypertension.
Hepatic fibrosis- MedGen UID:
- 116093
- •Concept ID:
- C0239946
- •
- Disease or Syndrome
The presence of excessive fibrous connective tissue in the liver. Fibrosis is a reparative or reactive process.
Hepatocellular carcinoma- MedGen UID:
- 389187
- •Concept ID:
- C2239176
- •
- Neoplastic Process
Hepatocellular carcinoma is the major histologic type of malignant primary liver neoplasm. It is the fifth most common cancer and the third most common cause of death from cancer worldwide. The major risk factors for HCC are chronic hepatitis B virus (HBV) infection, chronic hepatitis C virus (HCV) infection, prolonged dietary aflatoxin exposure, alcoholic cirrhosis, and cirrhosis due to other causes. Hepatoblastomas comprise 1 to 2% of all malignant neoplasms of childhood, most often occurring in children under 3 years of age. Hepatoblastomas are thought to be derived from undifferentiated hepatocytes (Taniguchi et al., 2002).
Hepatic steatosis- MedGen UID:
- 398225
- •Concept ID:
- C2711227
- •
- Disease or Syndrome
Steatosis is a term used to denote lipid accumulation within hepatocytes.
Portal inflammation- MedGen UID:
- 412612
- •Concept ID:
- C2748698
- •
- Pathologic Function
Infiltration of portal fields by inflammatory cells.
Ballooning hepatocyte degeneration- MedGen UID:
- 1743374
- •Concept ID:
- C5421675
- •
- Cell or Molecular Dysfunction
Swelling of the hepatocyte, rounding of its contour, and alteration of the cytoplasm, which takes on a reticulated, rarefied, or flocculant quality. The cytoplasm of the ballooned hepatocytes often contains clumps of eosinophilic ropey material known as Mallory-Denk bodies (MDBs) or Mallory hyaline, which is composed of hyperphosphorylated misfolded intermediate filaments, ubiquitin, and ubiquitin-binding protein P62.
Cerebral edema- MedGen UID:
- 2337
- •Concept ID:
- C0006114
- •
- Pathologic Function
Abnormal accumulation of fluid in the brain.
Coma- MedGen UID:
- 1054
- •Concept ID:
- C0009421
- •
- Disease or Syndrome
The complete absence of wakefulness and consciousness, which is evident through a lack of response to any form of external stimuli.
Confusion- MedGen UID:
- 3587
- •Concept ID:
- C0009676
- •
- Mental or Behavioral Dysfunction
Lack of clarity and coherence of thought, perception, understanding, or action.
Pancreatitis- MedGen UID:
- 14586
- •Concept ID:
- C0030305
- •
- Disease or Syndrome
The presence of inflammation in the pancreas.
Elevated circulating alanine aminotransferase concentration- MedGen UID:
- 57740
- •Concept ID:
- C0151905
- •
- Finding
An abnormally high concentration in the circulation of alanine aminotransferase (ALT).
Hypertriglyceridemia- MedGen UID:
- 167238
- •Concept ID:
- C0813230
- •
- Finding
An abnormal increase in the level of triglycerides in the blood.
Elevated plasma citrulline- MedGen UID:
- 868699
- •Concept ID:
- C4023102
- •
- Finding
An increased concentration of citrulline in the blood.
Elevated gamma-glutamyltransferase level- MedGen UID:
- 1370086
- •Concept ID:
- C4476869
- •
- Finding
Increased level of the enzyme gamma-glutamyltransferase (GGT). GGT is mainly present in kidney, liver, and pancreatic cells, but small amounts are present in other tissues.
Hyperargininemia- MedGen UID:
- 1733308
- •Concept ID:
- C5399765
- •
- Finding
An increased amount of arginine levels in the blood.
Hyperammonemia- MedGen UID:
- 1802066
- •Concept ID:
- C5574662
- •
- Laboratory or Test Result
An increased concentration of ammonia in the blood.
- Abnormality of metabolism/homeostasis
- Abnormality of the digestive system
- Abnormality of the genitourinary system
- Abnormality of the immune system
- Abnormality of the nervous system